#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12463960	12463960	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:12463960C>G	ENST00000358136.3	+	63	12094	c.11964C>G	c.(11962-11964)ctC>ctG	p.L3988L	VPS13D_ENST00000356315.4_Silent_p.L3963L|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGAAAATCTCAAAATCAGCA	0.388																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(11962-11964)CTC>CTG		vacuolar protein sorting 13D isoform 1							127.0	115.0	119.0					1																	12463960		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12463960C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11964C>G	1.37:g.12463960C>G						VPS13D_uc001atw.2_Silent_p.L3963L|VPS13D_uc001atx.2_Silent_p.L3175L|VPS13D_uc009vnl.2_RNA	p.L3988L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	63	12105	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3987						Silent	SNP	ENST00000358136.3	37	c.11964C>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	8.668	0.902226	0.17760	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.17	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4858	0.04598	0.1023:0.4473:0.1947:0.2557	.	.	.	.	X	2810	.	.	S	+	2	0	VPS13D	12386547	0.993000	0.37304	1.000000	0.80357	0.969000	0.65631	0.258000	0.18387	0.196000	0.20367	-0.745000	0.03516	TCA		0.388	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		11	30	0	0	0	0.013537	0	11	30		
FBXO42	54455	broad.mit.edu	37	1	16641859	16641859	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:16641859C>G	ENST00000375592.3	-	2	271	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	19										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AGCACAGTTTCTTCCTGGTCC	0.483																																						uc001ayg.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(55-57)GAA>CAA		F-box protein 42							106.0	89.0	95.0					1																	16641859		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16641859C>G	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.55G>C	1.37:g.16641859C>G	ENSP00000364742:p.Glu19Gln					FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.E19Q	p.E19Q	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	271	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	19					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.55G>C	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471576	0.63737	.	.	ENSG00000037637	ENST00000375592	T	0.04360	3.64	5.81	4.89	0.63831	.	0.316163	0.33438	N	0.004918	T	0.04770	0.0129	N	0.24115	0.695	0.45883	D	0.998732	B	0.20780	0.048	B	0.22386	0.039	T	0.37291	-0.9712	10	0.72032	D	0.01	-7.7462	12.2092	0.54369	0.0:0.9215:0.0:0.0785	.	19	Q6P3S6	FBX42_HUMAN	Q	19	ENSP00000364742:E19Q	ENSP00000364742:E19Q	E	-	1	0	FBXO42	16514446	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	4.902000	0.63266	1.447000	0.47661	0.563000	0.77884	GAA		0.483	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1				12	28	0	0	0	0.016723	0	12	28		
MAN1C1	57134	broad.mit.edu	37	1	25944326	25944326	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:25944326C>T	ENST00000374332.4	+	1	368	c.38C>T	c.(37-39)tCc>tTc	p.S13F	MAN1C1_ENST00000263979.3_5'Flank	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	13					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GTCCCGGCCTCCCCGTGGGGG	0.701																																						uc001bkm.2		NaN																	0				skin(1)	1						c.(37-39)TCC>TTC		mannosidase, alpha, class 1C, member 1							14.0	17.0	16.0					1																	25944326		2184	4279	6463	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944326C>T	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.38C>T	1.37:g.25944326C>T	ENSP00000363452:p.Ser13Phe					MAN1C1_uc009vry.1_5'UTR	p.S13F	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	368	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	13			Cytoplasmic (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.38C>T	CCDS265.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.047866	0.75846	.	.	ENSG00000117643	ENST00000374332	D	0.98849	-5.18	3.53	2.6	0.31112	.	0.382752	0.18902	U	0.128009	D	0.97161	0.9072	L	0.29908	0.895	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.95437	0.8522	10	0.59425	D	0.04	.	6.9601	0.24593	0.0:0.8703:0.0:0.1297	.	13	Q9NR34	MA1C1_HUMAN	F	13	ENSP00000363452:S13F	ENSP00000363452:S13F	S	+	2	0	MAN1C1	25816913	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	3.501000	0.53325	0.824000	0.34613	0.546000	0.68486	TCC		0.701	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3		NM_020379		10	14	0	0	0	0.010729	0	10	14		
ARID1A	8289	broad.mit.edu	37	1	27099981	27099981	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:27099981G>C	ENST00000324856.7	+	15	4231	c.3860G>C	c.(3859-3861)aGa>aCa	p.R1287T	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1287T|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.R904T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1287					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y1285fs*2(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTTATGACAGAGTGAGGTAA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Deletion - Frameshift(1)		breast(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3859-3861)AGA>ACA		AT rich interactive domain 1A isoform a							70.0	62.0	65.0					1																	27099981		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099981G>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3860G>C	1.37:g.27099981G>C	ENSP00000320485:p.Arg1287Thr					ARID1A_uc001bmt.1_Missense_Mutation_p.R1286T|ARID1A_uc001bmu.1_Missense_Mutation_p.R1287T|ARID1A_uc001bmw.1_Missense_Mutation_p.R904T|ARID1A_uc001bmx.1_Missense_Mutation_p.R133T|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.R1287T	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4233	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1287					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3860G>C	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.610134|2.610134	0.46527|0.46527	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.06608	.|3.4;4.02;3.28	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22399|0.22399	0.0540|0.0540	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.67145	.|0.996;0.993;0.989;0.981	.|D;D;D;D	.|0.77557	.|0.99;0.977;0.985;0.966	T|T	0.00233|0.00233	-1.1894|-1.1894	5|10	.|0.49607	.|T	.|0.09	-0.5845|-0.5845	18.2413|18.2413	0.89968|0.89968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|904;1287;1287;940	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	H|T	183|1287;1287;904	.|ENSP00000320485:R1287T;ENSP00000387636:R1287T;ENSP00000363267:R904T	.|ENSP00000320485:R1287T	Q|R	+|+	3|2	2|0	ARID1A|ARID1A	26972568|26972568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.068000|7.068000	0.76748|0.76748	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		5	19	0	0	0	0.014758	0	5	19		
AHDC1	27245	broad.mit.edu	37	1	27876618	27876618	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:27876618C>T	ENST00000247087.5	-	5	2605	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	AHDC1_ENST00000374011.2_Missense_Mutation_p.G670D			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	670	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCTGCTTTGCCCCCACGCCG	0.642																																						uc009vsy.2		NaN																	0				central_nervous_system(1)	1						c.(2008-2010)GGC>GAC		AT hook, DNA binding motif, containing 1							19.0	24.0	22.0					1																	27876618		2185	4275	6460	SO:0001583	missense	27245						DNA binding	g.chr1:27876618C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2009G>A	1.37:g.27876618C>T	ENSP00000247087:p.Gly670Asp					AHDC1_uc009vsz.1_Missense_Mutation_p.G670D	p.G670D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2978	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	670			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2009G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302495	0.81136	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.71222	-0.55;-0.55	5.51	5.51	0.81932	.	0.000000	0.56097	U	0.000022	T	0.77018	0.4069	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	T	0.79470	-0.1790	10	0.66056	D	0.02	-14.6711	18.1973	0.89826	0.0:1.0:0.0:0.0	.	670	Q5TGY3	AHDC1_HUMAN	D	670	ENSP00000247087:G670D;ENSP00000363123:G670D	ENSP00000247087:G670D	G	-	2	0	AHDC1	27749205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.918000	0.75788	2.582000	0.87167	0.650000	0.86243	GGC		0.642	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3				3	50	0	0	0	0.009096	0	3	50		
EIF3I	8668	broad.mit.edu	37	1	32691917	32691917	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:32691917G>C	ENST00000373586.1	+	5	468	c.396G>C	c.(394-396)caG>caC	p.Q132H	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				ATCCGAGCCAGATTGGTGAGG	0.542																																					Colon(102;1138 2140 2180 17876)	uc001bur.3		NaN																	0				ovary(1)	1						c.(394-396)CAG>CAC		eukaryotic translation initiation factor 3,							118.0	114.0	116.0					1																	32691917		2203	4300	6503	SO:0001583	missense	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32691917G>C	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.396G>C	1.37:g.32691917G>C	ENSP00000362688:p.Gln132His					EIF3I_uc009vuc.2_Missense_Mutation_p.Q132H|EIF3I_uc001bus.2_Missense_Mutation_p.Q84H	p.Q132H	NM_003757	NP_003748	Q13347	EIF3I_HUMAN			6	929	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	132						Missense_Mutation	SNP	ENST00000373586.1	37	c.396G>C	CCDS357.1	.	.	.	.	.	.	.	.	.	.	g	16.30	3.083867	0.55861	.	.	ENSG00000084623	ENST00000373586	T	0.46063	0.88	4.71	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	L	0.34521	1.04	0.53005	D	0.999961	D	0.53885	0.963	P	0.50192	0.634	T	0.07927	-1.0747	10	0.45353	T	0.12	-4.1597	8.7717	0.34735	0.2365:0.0:0.7635:0.0	.	132	Q13347	EIF3I_HUMAN	H	132	ENSP00000362688:Q132H	ENSP00000362688:Q132H	Q	+	3	2	EIF3I	32464504	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.232000	0.43018	0.526000	0.28541	0.457000	0.33378	CAG		0.542	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2		NM_003757		24	72	0	0	0	0.021523	0	24	72		
EIF3I	8668	broad.mit.edu	37	1	32692108	32692108	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:32692108G>C	ENST00000373586.1	+	6	577	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TGAGAGTGGAGAGCTCAACCA	0.473																																					Colon(102;1138 2140 2180 17876)	uc001bur.3		NaN																	0				ovary(1)	1						c.(505-507)GAG>CAG		eukaryotic translation initiation factor 3,							162.0	173.0	169.0					1																	32692108		2203	4300	6503	SO:0001583	missense	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32692108G>C	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.505G>C	1.37:g.32692108G>C	ENSP00000362688:p.Glu169Gln					EIF3I_uc009vuc.2_Missense_Mutation_p.E169Q|EIF3I_uc001bus.2_Missense_Mutation_p.E121Q	p.E169Q	NM_003757	NP_003748	Q13347	EIF3I_HUMAN			7	1038	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	169			WD 3.			Missense_Mutation	SNP	ENST00000373586.1	37	c.505G>C	CCDS357.1	.	.	.	.	.	.	.	.	.	.	g	14.76	2.631913	0.46944	.	.	ENSG00000084623	ENST00000373586	T	0.80909	-1.43	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	L	0.34521	1.04	0.58432	D	0.999999	B	0.26635	0.155	B	0.23419	0.046	T	0.67749	-0.5590	10	0.20519	T	0.43	-19.8654	17.4525	0.87596	0.0:0.0:1.0:0.0	.	169	Q13347	EIF3I_HUMAN	Q	169	ENSP00000362688:E169Q	ENSP00000362688:E169Q	E	+	1	0	EIF3I	32464695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.392000	0.97252	2.187000	0.69744	0.457000	0.33378	GAG		0.473	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2		NM_003757		52	155	0	0	0	0.01441	0	52	155		
SMAP2	64744	broad.mit.edu	37	1	40882742	40882742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:40882742C>T	ENST00000539317.1	+	9	1091	c.898C>T	c.(898-900)Cag>Tag	p.Q300*		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	380	Met-rich.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCAGCCAGCTCAGCAGCTGCA	0.522																																						uc001cfj.2		NaN																	0					0						c.(1138-1140)CAG>TAG		small ArfGAP2							34.0	32.0	33.0					1																	40882742		2203	4300	6503	SO:0001587	stop_gained	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40882742C>T	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.898C>T	1.37:g.40882742C>T	ENSP00000442835:p.Gln300*					SMAP2_uc001cfk.2_Nonsense_Mutation_p.Q350*|SMAP2_uc010oji.1_Nonsense_Mutation_p.Q297*|SMAP2_uc010ojj.1_Nonsense_Mutation_p.Q196*	p.Q380*	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		9	1203	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	380			Interaction with PICALM (By similarity).|Met-rich.		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Nonsense_Mutation	SNP	ENST00000539317.1	37	c.1138C>T	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	C	41	8.934837	0.99008	.	.	ENSG00000084070	ENST00000372718;ENST00000372708;ENST00000539317	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.7084	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	380;350;300	.	ENSP00000361793:Q350X	Q	+	1	0	SMAP2	40655329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.893000	0.75649	2.941000	0.99782	0.655000	0.94253	CAG		0.522	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022733		10	27	0	0	0	0.016723	0	10	27		
ASB17	127247	broad.mit.edu	37	1	76397769	76397769	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:76397769A>G	ENST00000284142.6	-	1	347	c.208T>C	c.(208-210)Tac>Cac	p.Y70H		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	70					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AATGCAATGTAATCTGTGAGT	0.388																																						uc001dhe.1		NaN																	0				ovary(1)	1						c.(208-210)TAC>CAC		ankyrin repeat and SOCS box-containing 17							144.0	131.0	136.0					1																	76397769		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76397769A>G	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.208T>C	1.37:g.76397769A>G	ENSP00000284142:p.Tyr70His					ASB17_uc001dhf.1_RNA	p.Y70H	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			1	348	-			70					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.208T>C	CCDS671.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304840	0.60305	.	.	ENSG00000154007	ENST00000284142	T	0.39406	1.08	6.08	6.08	0.98989	.	0.121896	0.37437	N	0.002085	T	0.34861	0.0912	L	0.27053	0.805	0.33706	D	0.615141	D	0.64830	0.994	P	0.58077	0.832	T	0.44697	-0.9311	10	0.87932	D	0	.	13.0348	0.58864	1.0:0.0:0.0:0.0	.	70	Q8WXJ9	ASB17_HUMAN	H	70	ENSP00000284142:Y70H	ENSP00000284142:Y70H	Y	-	1	0	ASB17	76170357	1.000000	0.71417	0.976000	0.42696	0.715000	0.41141	4.816000	0.62642	2.330000	0.79161	0.533000	0.62120	TAC		0.388	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1		NM_080868		11	61	0	0	0	0.016723	0	11	61		
FAM73A	374986	broad.mit.edu	37	1	78267138	78267138	+	Silent	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:78267138A>G	ENST00000370791.3	+	3	350	c.318A>G	c.(316-318)ccA>ccG	p.P106P	FAM73A_ENST00000443751.2_Silent_p.P68P	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	106						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AAATATTACCATGGGAACCAG	0.353																																						uc001dhx.2		NaN																	0				ovary(1)	1						c.(316-318)CCA>CCG		hypothetical protein LOC374986							79.0	81.0	80.0					1																	78267138		2203	4300	6503	SO:0001819	synonymous_variant	374986					integral to membrane		g.chr1:78267138A>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.318A>G	1.37:g.78267138A>G						FAM73A_uc010ork.1_Silent_p.P106P|FAM73A_uc010orl.1_Silent_p.P68P|FAM73A_uc001dhy.1_5'Flank	p.P106P	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	3	350	+			106					Q6MZG0	Silent	SNP	ENST00000370791.3	37	c.318A>G	CCDS681.1																																																																																				0.353	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1		NM_198549		14	26	0	0	0	0.016723	0	14	26		
GBP7	388646	broad.mit.edu	37	1	89598973	89598973	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:89598973C>G	ENST00000294671.2	-	10	1768	c.1630G>C	c.(1630-1632)Gaa>Caa	p.E544Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	544						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTTCTCAGTTCTCTCATATAG	0.448																																						uc001dna.2		NaN																	0				ovary(1)|skin(1)	2						c.(1630-1632)GAA>CAA		guanylate binding protein 4-like							302.0	269.0	280.0					1																	89598973		2202	4300	6502	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89598973C>G	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1630G>C	1.37:g.89598973C>G	ENSP00000294671:p.Glu544Gln					GBP2_uc001dmy.1_Intron	p.E544Q	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	10	1769	-		Lung NSC(277;0.0908)	544						Missense_Mutation	SNP	ENST00000294671.2	37	c.1630G>C	CCDS720.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563919	0.27915	.	.	ENSG00000213512	ENST00000294671	T	0.61980	0.06	3.35	1.42	0.22433	Guanylate-binding protein, C-terminal (3);	0.560017	0.18834	N	0.129863	T	0.45013	0.1321	M	0.71581	2.175	0.09310	N	1	P	0.39060	0.657	P	0.45138	0.471	T	0.40831	-0.9542	10	0.48119	T	0.1	.	5.2909	0.15727	0.0:0.7248:0.0:0.2752	.	544	Q8N8V2	GBP7_HUMAN	Q	544	ENSP00000294671:E544Q	ENSP00000294671:E544Q	E	-	1	0	GBP7	89371561	0.186000	0.23225	0.000000	0.03702	0.002000	0.02628	1.367000	0.34204	0.237000	0.21200	0.591000	0.81541	GAA		0.448	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1		NM_207398		33	61	0	0	0	0.030466	0	33	61		
PLPPR4	9890	broad.mit.edu	37	1	99771891	99771891	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:99771891G>C	ENST00000370185.3	+	7	2114	c.1617G>C	c.(1615-1617)gaG>gaC	p.E539D	LPPR4_ENST00000457765.1_Missense_Mutation_p.E481D|LPPR4_ENST00000370184.1_Missense_Mutation_p.E381D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		539					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCCCTGAGGAGACTCAGGAAA	0.557																																						uc001dse.2		NaN																	0				ovary(3)	3						c.(1615-1617)GAG>GAC		plasticity related gene 1							105.0	109.0	108.0					1																	99771891		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771891G>C																												ENST00000370185.3:c.1617G>C	1.37:g.99771891G>C	ENSP00000359204:p.Glu539Asp					LPPR4_uc010oue.1_Missense_Mutation_p.E481D	p.E539D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1723	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	539					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1617G>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336296	0.60963	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.33654	1.95;1.78;1.4	5.62	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.59436	1.845	0.50813	D	0.999897	D;D	0.71674	0.996;0.998	D;D	0.76071	0.987;0.976	T	0.23154	-1.0196	9	.	.	.	-26.9995	11.0085	0.47649	0.1432:0.0:0.8568:0.0	.	481;539	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	D	539;481;539;381	ENSP00000359204:E539D;ENSP00000394913:E481D;ENSP00000359203:E381D	.	E	+	3	2	RP4-788L13.1	99544479	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.051000	0.41307	2.638000	0.89438	0.591000	0.81541	GAG		0.557	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2				40	126	0	0	0	0.030466	0	40	126		
FLG	2312	broad.mit.edu	37	1	152286242	152286242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:152286242C>A	ENST00000368799.1	-	3	1155	c.1120G>T	c.(1120-1122)Gaa>Taa	p.E374*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	374	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGCCTGTTCATGGGATGAT	0.567									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1120-1122)GAA>TAA		filaggrin							312.0	304.0	307.0					1																	152286242		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286242C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1120G>T	1.37:g.152286242C>A	ENSP00000357789:p.Glu374*					uc001ezv.2_RNA	p.E374*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1156	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		374			Ser-rich.|Filaggrin 2.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.1120G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	18.13	3.554425	0.65425	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.35	-6.5	0.01884	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	1.1695	0.01823	0.1424:0.1921:0.242:0.4234	.	.	.	.	X	374	.	ENSP00000357789:E374X	E	-	1	0	FLG	150552866	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.294000	0.02767	-1.055000	0.03209	0.400000	0.26472	GAA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		143	385	1	0	1.02779e-63	0.01441	1.13056e-63	143	385		
FLG2	388698	broad.mit.edu	37	1	152323603	152323603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:152323603C>T	ENST00000388718.5	-	3	6731	c.6659G>A	c.(6658-6660)gGa>gAa	p.G2220E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2220					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGAGTAGTTCCCTGTCTCCC	0.532																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6658-6660)GGA>GAA		filaggrin family member 2							451.0	398.0	416.0					1																	152323603		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323603C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6659G>A	1.37:g.152323603C>T	ENSP00000373370:p.Gly2220Glu					uc001ezv.2_Intron	p.G2220E	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6732	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2220					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6659G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	4.843	0.156671	0.09236	.	.	ENSG00000143520	ENST00000388718	T	0.13420	2.59	4.08	-2.47	0.06442	.	.	.	.	.	T	0.11750	0.0286	M	0.77820	2.39	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.22452	-1.0216	9	0.10902	T	0.67	1.0864	4.2482	0.10682	0.1662:0.3341:0.0:0.4998	.	2220	Q5D862	FILA2_HUMAN	E	2220	ENSP00000373370:G2220E	ENSP00000373370:G2220E	G	-	2	0	FLG2	150590227	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-2.916000	0.00696	-0.326000	0.08564	-0.274000	0.10170	GGA		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		105	282	0	0	0	0.01441	0	105	282		
PGLYRP4	57115	broad.mit.edu	37	1	153309655	153309655	+	Splice_Site	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:153309655A>G	ENST00000359650.5	-	8	1008		c.e8+1		PGLYRP4_ENST00000368739.3_Splice_Site	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCCACTTACCTGTGAAGG	0.507																																						uc001fbo.2		NaN																	0				ovary(3)|skin(1)	4						c.e8+1		peptidoglycan recognition protein-I-beta							118.0	93.0	101.0					1																	153309655		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153309655A>G	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.943+1T>C	1.37:g.153309655A>G						PGLYRP4_uc001fbp.2_Splice_Site_p.G311_splice	p.G315_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		8	1008	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)							A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.943_splice	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.431572	0.25813	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.414	0.38510	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGLYRP4	151576279	1.000000	0.71417	0.996000	0.52242	0.260000	0.26232	4.289000	0.59013	1.766000	0.52107	0.529000	0.55759	.		0.507	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1		NM_020393	Intron	46	31	0	0	0	0.01441	0	46	31		
DCST2	127579	broad.mit.edu	37	1	155001803	155001803	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:155001803G>A	ENST00000368424.3	-	8	1306	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	DCST2_ENST00000295536.5_Silent_p.L416L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	416						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACGAGGAGGAGGTGTCGGA	0.547																																						uc001fgm.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1246-1248)CTC>CTT		DC-STAMP domain containing 2							146.0	136.0	139.0					1																	155001803		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155001803G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1248C>T	1.37:g.155001803G>A						DCST2_uc009wpb.2_RNA	p.L416L	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		8	1328	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		416			Helical; (Potential).		Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.1248C>T	CCDS1082.2																																																																																				0.547	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3		NM_144622		36	94	0	0	0	0.021022	0	36	94		
FAM189B	10712	broad.mit.edu	37	1	155218018	155218018	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:155218018C>G	ENST00000361361.2	-	11	2165	c.1656G>C	c.(1654-1656)gaG>gaC	p.E552D	FAM189B_ENST00000368368.3_Missense_Mutation_p.E534D|FAM189B_ENST00000350210.2_Missense_Mutation_p.E456D|FAM189B_ENST00000472550.1_5'Flank	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	552						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCGCCGTTTCTCGGCTGACC	0.652																																						uc001fjm.2		NaN																	0				ovary(1)|breast(1)	2						c.(1654-1656)GAG>GAC		hypothetical protein LOC10712 isoform a							21.0	28.0	25.0					1																	155218018		2203	4299	6502	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155218018C>G	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1656G>C	1.37:g.155218018C>G	ENSP00000354958:p.Glu552Asp					RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.E354D|FAM189B_uc001fjn.2_Missense_Mutation_p.E456D|FAM189B_uc001fjo.2_Missense_Mutation_p.E534D|FAM189B_uc001fjp.2_RNA	p.E552D	NM_006589	NP_006580	P81408	F189B_HUMAN			11	2262	-			552					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1656G>C	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361568	0.61403	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	4.4	3.49	0.39957	.	0.354569	0.26635	N	0.023299	T	0.01661	0.0053	N	0.08118	0	0.27455	N	0.953323	D;P;P;P	0.63046	0.992;0.915;0.949;0.915	D;P;P;P	0.68765	0.96;0.543;0.731;0.543	T	0.49214	-0.8963	10	0.13470	T	0.59	.	8.3051	0.32038	0.0:0.8915:0.0:0.1085	.	317;534;456;552	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	D	456;534;552;235;274	ENSP00000307128:E456D;ENSP00000357352:E534D;ENSP00000354958:E552D;ENSP00000427011:E274D	ENSP00000323164:E235D	E	-	3	2	FAM189B	153484642	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	2.298000	0.43602	1.218000	0.43458	0.549000	0.68633	GAG		0.652	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1		NM_006589		14	12	0	0	0	0.024245	0	14	12		
YY1AP1	55249	broad.mit.edu	37	1	155646459	155646459	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:155646459C>G	ENST00000295566.4	-	5	425	c.402G>C	c.(400-402)aaG>aaC	p.K134N	YY1AP1_ENST00000368340.5_Missense_Mutation_p.K206N|YY1AP1_ENST00000368330.2_Missense_Mutation_p.K68N|YY1AP1_ENST00000407221.1_Missense_Mutation_p.K57N|YY1AP1_ENST00000355499.4_Missense_Mutation_p.K68N|YY1AP1_ENST00000361831.5_Missense_Mutation_p.K57N|YY1AP1_ENST00000404643.1_Missense_Mutation_p.K68N|YY1AP1_ENST00000368339.5_Missense_Mutation_p.K206N|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000311573.5_Missense_Mutation_p.K57N|YY1AP1_ENST00000359205.5_Missense_Mutation_p.K57N|YY1AP1_ENST00000405763.3_Missense_Mutation_p.K206N|YY1AP1_ENST00000347088.5_Missense_Mutation_p.K68N|YY1AP1_ENST00000438245.2_Missense_Mutation_p.K68N|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_5'UTR	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	134					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTGAAGGTTTCTTCATCTTCA	0.458																																						uc001fln.2		NaN																	0				ovary(2)|skin(1)	3						c.(400-402)AAG>AAC		YY1-associated protein isoform 2							236.0	190.0	205.0					1																	155646459		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155646459C>G	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.402G>C	1.37:g.155646459C>G	ENSP00000295566:p.Lys134Asn					YY1AP1_uc010pgg.1_Missense_Mutation_p.K2N|YY1AP1_uc010pgh.1_Missense_Mutation_p.K57N|YY1AP1_uc010pgi.1_Missense_Mutation_p.K206N|YY1AP1_uc001flh.2_Missense_Mutation_p.K206N|YY1AP1_uc009wqt.2_Missense_Mutation_p.K57N|YY1AP1_uc001flk.2_Missense_Mutation_p.K57N|YY1AP1_uc001fll.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.K57N|YY1AP1_uc001fli.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqw.2_Missense_Mutation_p.K57N|YY1AP1_uc001flo.2_Missense_Mutation_p.K2N|YY1AP1_uc001flp.2_Missense_Mutation_p.K68N|YY1AP1_uc010pgj.1_Missense_Mutation_p.K134N|YY1AP1_uc009wqx.2_Missense_Mutation_p.K206N|YY1AP1_uc010pgk.1_Missense_Mutation_p.K206N	p.K134N	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			5	426	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		134					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.402G>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147908	0.37923	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.75;1.76;1.75;1.69;1.75;1.77;1.75;1.76;1.78;1.72	3.78	1.84	0.25277	.	0.176204	0.48767	D	0.000178	T	0.25680	0.0625	L	0.60455	1.87	0.30957	N	0.724129	D;D;D;D;D;P;D;D	0.76494	0.983;0.973;0.999;0.982;0.984;0.908;0.992;0.994	P;D;D;P;P;P;P;P	0.69479	0.864;0.913;0.964;0.837;0.862;0.888;0.888;0.675	T	0.05937	-1.0855	10	0.62326	D	0.03	.	7.4704	0.27344	0.0:0.7153:0.0:0.2847	.	68;134;206;68;206;134;68;206	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	N	57;68;57;68;57;206;134;68;57;68;206;206;68;57;68	ENSP00000352134:K57N;ENSP00000347686:K68N;ENSP00000311138:K57N;ENSP00000316079:K68N;ENSP00000355298:K57N;ENSP00000357324:K206N;ENSP00000295566:K134N;ENSP00000357314:K68N;ENSP00000385791:K57N;ENSP00000385390:K68N;ENSP00000357323:K206N	ENSP00000295566:K134N	K	-	3	2	YY1AP1	153913083	0.970000	0.33590	1.000000	0.80357	0.434000	0.31775	-0.013000	0.12678	0.253000	0.21552	0.455000	0.32223	AAG		0.458	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118		18	59	0	0	0	0.010504	0	18	59		
POGK	57645	broad.mit.edu	37	1	166819004	166819004	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:166819004G>C	ENST00000367875.1	+	5	1548	c.1188G>C	c.(1186-1188)ctG>ctC	p.L396L	POGK_ENST00000537173.1_Silent_p.L278L|POGK_ENST00000367876.4_Silent_p.L396L|POGK_ENST00000536514.1_Silent_p.L311L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	396	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGGAAAAACTGAAAATCACAG	0.498																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NaN																	0				ovary(1)	1						c.(1186-1188)CTG>CTC		pogo transposable element with KRAB domain							77.0	69.0	72.0					1																	166819004		2203	4300	6503	SO:0001819	synonymous_variant	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166819004G>C	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1188G>C	1.37:g.166819004G>C						POGK_uc010ple.1_Silent_p.L311L|POGK_uc010plf.1_Silent_p.L278L	p.L396L	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	1308	+			396			DDE.		Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	c.1188G>C	CCDS1254.1																																																																																				0.498	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1		NM_017542		12	34	0	0	0	0.013537	0	12	34		
RABGAP1L	9910	broad.mit.edu	37	1	174210653	174210653	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:174210653C>T	ENST00000251507.4	+	5	749	c.575C>T	c.(574-576)gCa>gTa	p.A192V	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.A155V	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGGAGATAGCATCTTTTCCA	0.363																																						uc001gjx.2		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(574-576)GCA>GTA		RAB GTPase activating protein 1-like isoform A							88.0	84.0	86.0					1																	174210653		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174210653C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.575C>T	1.37:g.174210653C>T	ENSP00000251507:p.Ala192Val					RABGAP1L_uc009wwq.1_Missense_Mutation_p.A192V|RABGAP1L_uc001gjw.2_Missense_Mutation_p.A155V	p.A192V	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			5	770	+			192			PID.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.575C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264006	0.95399	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.19669	2.13;2.13;2.13	5.51	5.51	0.81932	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	T	0.28996	-1.0026	10	0.49607	T	0.09	.	19.4086	0.94658	0.0:1.0:0.0:0.0	.	192;192;155	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	V	155;192;192;192	ENSP00000350027:A155V;ENSP00000251507:A192V;ENSP00000403136:A192V	ENSP00000251507:A192V	A	+	2	0	RABGAP1L	172477276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.595000	0.87683	0.563000	0.77884	GCA		0.363	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1		NM_001243765		10	23	0	0	0	0.013537	0	10	23		
USH2A	7399	broad.mit.edu	37	1	215955497	215955497	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:215955497G>A	ENST00000307340.3	-	54	11013	c.10627C>T	c.(10627-10629)Cgt>Tgt	p.R3543C	USH2A_ENST00000366943.2_Missense_Mutation_p.R3543C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3543	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCGAAAACGTTCAATTCCA	0.373										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10627-10629)CGT>TGT		usherin isoform B							82.0	79.0	80.0					1																	215955497		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215955497G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10627C>T	1.37:g.215955497G>A	ENSP00000305941:p.Arg3543Cys	HNSCC(13;0.011)					p.R3543C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	54	11014	-			3543			Extracellular (Potential).|Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10627C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026237	0.35701	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53206	0.63;0.63	5.76	-4.96	0.03038	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.465304	0.18055	N	0.153160	T	0.26011	0.0634	N	0.17723	0.515	0.29001	N	0.887455	B	0.14438	0.01	B	0.06405	0.002	T	0.08086	-1.0739	10	0.35671	T	0.21	.	10.8155	0.46573	0.2503:0.0931:0.6566:0.0	.	3543	O75445	USH2A_HUMAN	C	3543	ENSP00000305941:R3543C;ENSP00000355910:R3543C	ENSP00000305941:R3543C	R	-	1	0	USH2A	214022120	0.128000	0.22383	0.001000	0.08648	0.811000	0.45836	0.298000	0.19120	-0.808000	0.04387	0.650000	0.86243	CGT		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		6	32	0	0	0	0.021553	0	6	32		
TBCE	6905	broad.mit.edu	37	1	235577915	235577915	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:235577915C>G	ENST00000366601.3	+	4	529	c.353C>G	c.(352-354)tCt>tGt	p.S118C	TBCE_ENST00000543662.1_Missense_Mutation_p.S118C|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S118C			Q15813	TBCE_HUMAN	tubulin folding cofactor E	118					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GGTTTTGACTCTATTATGAAA	0.358																																						uc001hwz.1		NaN																	0					0						c.(352-354)TCT>TGT		beta-tubulin cofactor E							73.0	70.0	71.0					1																	235577915		2203	4300	6503	SO:0001583	missense	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235577915C>G	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.353C>G	1.37:g.235577915C>G	ENSP00000355560:p.Ser118Cys					TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.S118C|TBCE_uc010pxr.1_Missense_Mutation_p.S118C|TBCE_uc001hxb.1_5'UTR	p.S118C	NM_003193	NP_003184	Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		4	476	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	118					A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	c.353C>G	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776906	0.31411	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.48836	0.8;0.8;0.8	5.66	3.75	0.43078	Cytoskeleton-associated protein, Gly-rich domain (1);	0.473148	0.26237	N	0.025536	T	0.47581	0.1453	M	0.78637	2.42	0.33292	D	0.563653	B;B	0.24533	0.105;0.006	B;B	0.18871	0.023;0.013	T	0.58885	-0.7557	10	0.72032	D	0.01	-6.2203	9.9405	0.41578	0.1425:0.7838:0.0:0.0737	.	118;118	B7Z3P1;Q15813	.;TBCE_HUMAN	C	118	ENSP00000355560:S118C;ENSP00000384571:S118C;ENSP00000439170:S118C	ENSP00000355560:S118C	S	+	2	0	TBCE	233644538	0.036000	0.19791	0.940000	0.37924	0.689000	0.40095	0.857000	0.27831	0.812000	0.34326	0.650000	0.86243	TCT		0.358	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3		NM_003193		15	20	0	0	0	0.028581	0	15	20		
KIF26B	55083	broad.mit.edu	37	1	245849192	245849192	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:245849192G>A	ENST00000407071.2	+	12	3347	c.2907G>A	c.(2905-2907)gcG>gcA	p.A969A	KIF26B_ENST00000366518.4_Silent_p.A588A	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	969					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCAAGCAGCGGGGGCAAGCC	0.587																																						uc001ibf.1		NaN																	0				ovary(3)	3						c.(2905-2907)GCG>GCA		kinesin family member 26B																																				SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849192G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2907G>A	1.37:g.245849192G>A						KIF26B_uc001ibg.1_Silent_p.A587A|KIF26B_uc001ibh.1_Silent_p.A211A	p.A969A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	3347	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		969					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2907G>A	CCDS44342.1																																																																																				0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354		3	16	0	0	0	0.009096	0	3	16		
ADARB2	105	broad.mit.edu	37	10	1405390	1405390	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:1405390G>A	ENST00000381312.1	-	3	1235	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	304	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACGAAGCTCCGCGCGCGCCGC	0.756																																						uc009xhq.2		NaN																	0				large_intestine(2)|central_nervous_system(1)	3						c.(910-912)CGG>TGG		adenosine deaminase, RNA-specific, B2							5.0	5.0	5.0					10																	1405390		1989	3983	5972	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405390G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.910C>T	10.37:g.1405390G>A	ENSP00000370713:p.Arg304Trp						p.R304W	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1284	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	304			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.910C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385960	0.61956	.	.	ENSG00000185736	ENST00000381312	T	0.78481	-1.18	5.13	1.49	0.22878	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.352310	0.29501	N	0.011977	D	0.85496	0.5710	M	0.82716	2.605	0.80722	D	1	D	0.65815	0.995	P	0.58970	0.849	D	0.85987	0.1486	10	0.87932	D	0	-8.5336	13.1195	0.59318	0.0:0.0:0.4545:0.5455	.	304	Q9NS39	RED2_HUMAN	W	304	ENSP00000370713:R304W	ENSP00000370713:R304W	R	-	1	2	ADARB2	1395390	1.000000	0.71417	0.075000	0.20258	0.501000	0.33797	2.830000	0.48136	0.002000	0.14630	0.561000	0.74099	CGG		0.756	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1		NM_018702		7	7	0	0	0	0.00308	0	7	7		
MYO3A	53904	broad.mit.edu	37	10	26462805	26462805	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:26462805C>T	ENST00000265944.5	+	30	3778	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1204					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCTACCTTGTAG	0.423																																						uc001isn.2		NaN																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3610-3612)TTC>TTT		myosin IIIA							88.0	89.0	89.0					10																	26462805		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462805C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3612C>T	10.37:g.26462805C>T						MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.F1204F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	3972	+			1204					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3612C>T	CCDS7148.1																																																																																				0.423	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433		9	47	0	0	0	0.004482	0	9	47		
AGAP6	414189	broad.mit.edu	37	10	51748622	51748622	+	Silent	SNP	A	A	G	rs371327390	byFrequency	TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:51748622A>G	ENST00000374056.4	+	1	545	c.147A>G	c.(145-147)gtA>gtG	p.V49V	AGAP6_ENST00000412531.3_Silent_p.V49V			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	49					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTGCTGCTGTACAGCCTGCTG	0.582													A|||	4	0.000798722	0.0008	0.0	5008	,	,		16083	0.003		0.0	False		,,,				2504	0.0					uc001jix.3		NaN																	0				skin(1)	1						c.(145-147)GTA>GTG		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748622A>G		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.147A>G	10.37:g.51748622A>G							p.V49V	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			1	545	+			49						Silent	SNP	ENST00000374056.4	37	c.147A>G																																																																																					0.582	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001077665		4	202	0	0	0	0.021553	0	4	202		
FAM213A	84293	broad.mit.edu	37	10	82187195	82187195	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:82187195C>G	ENST00000372181.1	+	4	989	c.519C>G	c.(517-519)aaC>aaG	p.N173K	FAM213A_ENST00000372188.1_Missense_Mutation_p.N173K|FAM213A_ENST00000372187.5_Missense_Mutation_p.N173K|FAM213A_ENST00000372185.1_Missense_Mutation_p.N162K	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	173					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										TCTCTGGAAACCTGGAAGGAG	0.502																																						uc001kcc.3		NaN																	0					0						c.(517-519)AAC>AAG		hypothetical protein LOC84293 precursor							122.0	106.0	111.0					10																	82187195		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82187195C>G	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.519C>G	10.37:g.82187195C>G	ENSP00000361254:p.Asn173Lys					C10orf58_uc001kcd.3_Missense_Mutation_p.N162K|C10orf58_uc001kce.3_Missense_Mutation_p.N173K|C10orf58_uc001kcf.3_Missense_Mutation_p.N173K	p.N173K	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		5	679	+			173					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.519C>G	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260280	0.80246	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.97	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	M	0.92604	3.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.69409	-0.5153	10	0.59425	D	0.04	-0.4955	7.3366	0.26613	0.0:0.7256:0.0:0.2744	.	173	Q9BRX8	PAMM_HUMAN	K	173;173;162;173	ENSP00000361262:N173K;ENSP00000361261:N173K;ENSP00000361259:N162K;ENSP00000361254:N173K	ENSP00000361254:N173K	N	+	3	2	C10orf58	82177175	0.989000	0.36119	1.000000	0.80357	0.995000	0.86356	0.635000	0.24629	0.798000	0.33994	0.655000	0.94253	AAC		0.502	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2				38	27	0	0	0	0.023175	0	38	27		
MYOF	26509	broad.mit.edu	37	10	95072942	95072942	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:95072942G>A	ENST00000359263.4	-	51	5723	c.5724C>T	c.(5722-5724)caC>caT	p.H1908H	MYOF_ENST00000371502.4_Silent_p.H1898H|MYOF_ENST00000358334.5_Silent_p.H1895H|MYOF_ENST00000371501.4_Silent_p.H1908H	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1908					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAATGATCGTGTGACGCAAGT	0.458																																						uc001kin.2		NaN																	0				ovary(3)|breast(1)	4						c.(5722-5724)CAC>CAT		myoferlin isoform a							164.0	160.0	161.0					10																	95072942		1986	4165	6151	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95072942G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5724C>T	10.37:g.95072942G>A						MYOF_uc001kio.2_Silent_p.H1895H|MYOF_uc009xue.2_RNA	p.H1908H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			51	5847	-			1908			Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.5724C>T	CCDS41551.1																																																																																				0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		NM_013451		30	53	0	0	0	0.037714	0	30	53		
SORCS3	22986	broad.mit.edu	37	10	106916944	106916944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr10:106916944C>T	ENST00000369701.3	+	10	1758	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	511					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGGACGACCAGGTGAAGAC	0.522																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1531-1533)CAG>TAG		VPS10 domain receptor protein SORCS 3 precursor							132.0	117.0	122.0					10																	106916944		2203	4300	6503	SO:0001587	stop_gained	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106916944C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1531C>T	10.37:g.106916944C>T	ENSP00000358715:p.Gln511*						p.Q511*	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	10	1758	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	511			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Nonsense_Mutation	SNP	ENST00000369701.3	37	c.1531C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	40	8.265324	0.98732	.	.	ENSG00000156395	ENST00000369701	.	.	.	6.04	6.04	0.98038	.	0.246545	0.41396	D	0.000897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	511	.	.	Q	+	1	0	SORCS3	106906934	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.134000	0.50538	2.873000	0.98535	0.563000	0.77884	CAG		0.522	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		26	35	0	0	0	0.027356	0	26	35		
B4GALNT4	338707	broad.mit.edu	37	11	380870	380870	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:380870C>G	ENST00000329962.6	+	19	2915	c.2915C>G	c.(2914-2916)tCg>tGg	p.S972W		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	972					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCTACAAGTCGGACTTTGAC	0.612																																						uc001lpb.2		NaN																	0				pancreas(1)	1						c.(2914-2916)TCG>TGG		beta							80.0	78.0	79.0					11																	380870		2203	4300	6503	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380870C>G	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2915C>G	11.37:g.380870C>G	ENSP00000328277:p.Ser972Trp						p.S972W	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	19	2924	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	972			Lumenal (Potential).		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2915C>G	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	c	18.33	3.600314	0.66332	.	.	ENSG00000182272	ENST00000329962	T	0.39056	1.1	3.62	2.68	0.31781	.	0.072366	0.64402	D	0.000020	T	0.66915	0.2838	M	0.87758	2.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73600	-0.3931	10	0.87932	D	0	-14.19	13.1456	0.59459	0.0:0.8379:0.1621:0.0	.	972	Q76KP1	B4GN4_HUMAN	W	972	ENSP00000328277:S972W	ENSP00000328277:S972W	S	+	2	0	B4GALNT4	370870	1.000000	0.71417	0.638000	0.29380	0.912000	0.54170	7.537000	0.82033	0.830000	0.34757	0.561000	0.74099	TCG		0.612	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2		NM_178537		9	19	0	0	0	0.004482	0	9	19		
CEND1	51286	broad.mit.edu	37	11	788279	788279	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:788279C>T	ENST00000330106.4	-	2	473	c.298G>A	c.(298-300)Ggg>Agg	p.G100R	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	100					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCCGCCCCGTCCCCAGGA	0.692																																						uc001lrh.1		NaN																	0					0						c.(298-300)GGG>AGG		cell cycle exit and neuronal differentiation 1							18.0	20.0	19.0					11																	788279		2202	4297	6499	SO:0001583	missense	51286					integral to membrane		g.chr11:788279C>T	AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.298G>A	11.37:g.788279C>T	ENSP00000328336:p.Gly100Arg						p.G100R	NM_016564	NP_057648	Q8N111	CEND_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	477	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	100			Cytoplasmic (Potential).		Q9NYM6	Missense_Mutation	SNP	ENST00000330106.4	37	c.298G>A	CCDS7714.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305587	0.40795	.	.	ENSG00000184524	ENST00000330106	.	.	.	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000005	T	0.49490	0.1560	L	0.29908	0.895	0.25150	N	0.99044	D	0.71674	0.998	D	0.64776	0.929	T	0.42548	-0.9445	9	0.72032	D	0.01	-12.3109	13.3867	0.60799	0.0:0.8405:0.1595:0.0	.	100	Q8N111	CEND_HUMAN	R	100	.	ENSP00000328336:G100R	G	-	1	0	CEND1	778279	0.017000	0.18338	0.940000	0.37924	0.011000	0.07611	0.495000	0.22483	2.375000	0.81037	0.462000	0.41574	GGG		0.692	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257105.1		NM_016564		6	8	0	0	0	0.021553	0	6	8		
OR51S1	119692	broad.mit.edu	37	11	4869844	4869844	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:4869844C>G	ENST00000322101.2	-	1	670	c.595G>C	c.(595-597)Gaa>Caa	p.E199Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCCAAGCTTCTGGGCAGGCC	0.542																																						uc010qyo.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(595-597)GAA>CAA		olfactory receptor, family 51, subfamily S,							71.0	78.0	75.0					11																	4869844		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869844C>G	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.595G>C	11.37:g.4869844C>G	ENSP00000322754:p.Glu199Gln						p.E199Q	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	595	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	199			Extracellular (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.595G>C	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126562	0.37533	.	.	ENSG00000176922	ENST00000322101	T	0.37584	1.19	5.25	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.155563	0.30177	N	0.010226	T	0.27313	0.0670	L	0.29908	0.895	0.09310	N	0.999998	B	0.30937	0.301	B	0.31812	0.136	T	0.29579	-1.0007	10	0.87932	D	0	0.2397	11.0718	0.48008	0.0:0.8445:0.0:0.1555	.	199	Q8NGJ8	O51S1_HUMAN	Q	199	ENSP00000322754:E199Q	ENSP00000322754:E199Q	E	-	1	0	OR51S1	4826420	0.000000	0.05858	0.932000	0.37286	0.871000	0.50021	0.547000	0.23299	1.446000	0.47643	0.655000	0.94253	GAA		0.542	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1		NM_001004758		29	36	0	0	0	0.010818	0	29	36		
PIK3C2A	5286	broad.mit.edu	37	11	17143877	17143877	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:17143877C>T	ENST00000265970.7	-	14	2514	c.2515G>A	c.(2515-2517)Gat>Aat	p.D839N	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.D459N	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	839	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.D839H(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GAAGGAAAATCAACCTTTAAA	0.303																																						uc001mmq.3		NaN																	1	Substitution - Missense(1)		kidney(1)	lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(2515-2517)GAT>AAT		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						101.0	108.0	106.0					11																	17143877		2199	4289	6488	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17143877C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2515G>A	11.37:g.17143877C>T	ENSP00000265970:p.Asp839Asn					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D459N|PIK3C2A_uc001mmr.3_Intron	p.D839N	NM_002645	NP_002636	O00443	P3C2A_HUMAN			14	2581	-			839					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2515G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586214	0.66105	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	D;D	0.84223	-1.82;-1.82	5.27	5.27	0.74061	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.282155	0.35585	N	0.003104	D	0.84037	0.5384	M	0.68593	2.085	0.80722	D	1	P	0.36974	0.576	B	0.34242	0.178	D	0.85570	0.1233	10	0.56958	D	0.05	-13.068	17.0798	0.86595	0.0:1.0:0.0:0.0	.	839	O00443	P3C2A_HUMAN	N	839;459	ENSP00000265970:D839N;ENSP00000438687:D459N	ENSP00000265970:D839N	D	-	1	0	PIK3C2A	17100453	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.335000	0.65929	2.460000	0.83146	0.557000	0.71058	GAT		0.303	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		6	31	0	0	0	0.02938	0	6	31		
MYOD1	4654	broad.mit.edu	37	11	17741681	17741681	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:17741681G>C	ENST00000250003.3	+	1	567	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	118	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CACCATGCGCGAGCGGCGCCG	0.662																																						uc001mni.2		NaN																	0				breast(2)|ovary(1)	3						c.(352-354)GAG>CAG		myogenic differentiation 1							25.0	17.0	20.0					11																	17741681		2191	4287	6478	SO:0001583	missense	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741681G>C	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.352G>C	11.37:g.17741681G>C	ENSP00000250003:p.Glu118Gln						p.E118Q	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	572	+			118			Basic motif.		O75321	Missense_Mutation	SNP	ENST00000250003.3	37	c.352G>C	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209279	0.95069	.	.	ENSG00000129152	ENST00000250003	D	0.99875	-7.4	4.88	4.88	0.63580	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95937	0.8943	10	0.87932	D	0	-27.8744	18.2189	0.89895	0.0:0.0:1.0:0.0	.	118	P15172	MYOD1_HUMAN	Q	118	ENSP00000250003:E118Q	ENSP00000250003:E118Q	E	+	1	0	MYOD1	17698257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.640000	0.98453	2.541000	0.85698	0.561000	0.74099	GAG		0.662	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1		NM_002478		3	5	0	0	0	0.004672	0	3	5		
OR8J3	81168	broad.mit.edu	37	11	55904466	55904466	+	Silent	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:55904466C>A	ENST00000301529.1	-	1	728	c.729G>T	c.(727-729)tcG>tcT	p.S243S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S243S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTATCATATGCGAAGCGCAGG	0.403																																						uc010riz.1		NaN																	1	Substitution - coding silent(1)		endometrium(1)	skin(2)	2						c.(727-729)TCG>TCT		olfactory receptor, family 8, subfamily J,							122.0	113.0	116.0					11																	55904466		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904466C>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.729G>T	11.37:g.55904466C>A							p.S243S	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	729	-	Esophageal squamous(21;0.00693)		243			Helical; Name=6; (Potential).		Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.729G>T	CCDS31520.1																																																																																				0.403	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1		NM_001004064		17	18	1	0	1.99824e-07	0.0333	2.10925e-07	17	18		
OSBP	5007	broad.mit.edu	37	11	59376031	59376031	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:59376031C>T	ENST00000263847.1	-	3	1227	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	250					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCATTGCTCTCAGCAGGCAAC	0.488																																						uc001noc.1		NaN																	0				large_intestine(1)	1						c.(748-750)GAG>AAG		oxysterol binding protein							173.0	149.0	157.0					11																	59376031		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376031C>T	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.748G>A	11.37:g.59376031C>T	ENSP00000263847:p.Glu250Lys						p.E250K	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1228	-		all_epithelial(135;0.000236)	250					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.748G>A	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901997	0.92035	.	.	ENSG00000110048	ENST00000263847	D	0.86956	-2.19	5.89	5.89	0.94794	.	0.047854	0.85682	D	0.000000	D	0.91212	0.7231	M	0.85197	2.74	0.80722	D	1	P	0.48230	0.907	P	0.48400	0.576	D	0.89295	0.3622	10	0.25751	T	0.34	-27.9385	19.8467	0.96710	0.0:1.0:0.0:0.0	.	250	P22059	OSBP1_HUMAN	K	250	ENSP00000263847:E250K	ENSP00000263847:E250K	E	-	1	0	OSBP	59132607	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	4.578000	0.60929	2.789000	0.95967	0.655000	0.94253	GAG		0.488	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1				38	45	0	0	0	0.023175	0	38	45		
CHRM1	1128	broad.mit.edu	37	11	62677566	62677566	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:62677566C>T	ENST00000306960.3	-	2	1548	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	336					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CTTGCCAGCTCGATCACGCCC	0.627																																						uc001nwi.2		NaN																	0					0						c.(1006-1008)CGA>CAA		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						47.0	48.0	48.0					11																	62677566		2201	4298	6499	SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677566C>T	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1007G>A	11.37:g.62677566C>T	ENSP00000306490:p.Arg336Gln						p.R336Q	NM_000738	NP_000729	P11229	ACM1_HUMAN			2	1408	-			336			Cytoplasmic (Potential).		Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.1007G>A	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	7.219	0.597068	0.13875	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.60040	0.25;0.22	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.359671	0.19581	N	0.110847	T	0.43456	0.1248	L	0.28192	0.835	0.09310	N	0.999995	B	0.21753	0.06	B	0.16722	0.016	T	0.12708	-1.0537	10	0.13853	T	0.58	-0.4776	15.3604	0.74469	0.0:1.0:0.0:0.0	.	336	P11229	ACM1_HUMAN	Q	336	ENSP00000306490:R336Q;ENSP00000441188:R336Q	ENSP00000306490:R336Q	R	-	2	0	CHRM1	62434142	0.000000	0.05858	0.317000	0.25265	0.895000	0.52256	0.364000	0.20325	2.481000	0.83766	0.563000	0.77884	CGA		0.627	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1		NM_000738		12	15	0	0	0	0.016723	0	12	15		
ANO1	55107	broad.mit.edu	37	11	70007754	70007754	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:70007754G>C	ENST00000355303.5	+	18	2112	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	ANO1_ENST00000530676.1_Missense_Mutation_p.E457Q|ANO1_ENST00000531349.1_Missense_Mutation_p.E312Q|ANO1_ENST00000398543.2_Missense_Mutation_p.E457Q|ANO1_ENST00000316296.5_Missense_Mutation_p.E545Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E603Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	603					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GAAAAGCTTTGAGGAGAGGCT	0.537																																						uc001opj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1807-1809)GAG>CAG		anoctamin 1, calcium activated chloride channel							162.0	170.0	168.0					11																	70007754		1926	4121	6047	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007754G>C	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1807G>C	11.37:g.70007754G>C	ENSP00000347454:p.Glu603Gln					ANO1_uc001opk.1_Missense_Mutation_p.E545Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E312Q	p.E603Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			18	2112	+			603			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1807G>C	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339863	0.81911	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.01	5.01	0.66863	.	0.060163	0.64402	D	0.000004	D	0.84633	0.5515	M	0.88105	2.93	0.80722	D	1	D;P;D	0.76494	0.999;0.934;0.993	D;P;D	0.72625	0.978;0.502;0.956	D	0.87307	0.2309	9	.	.	.	.	18.3244	0.90248	0.0:0.0:1.0:0.0	.	312;545;603	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	Q	603;603;457;361;545;457;312	ENSP00000347454:E603Q;ENSP00000444689:E603Q;ENSP00000381551:E457Q;ENSP00000319477:E545Q;ENSP00000435797:E457Q;ENSP00000432843:E312Q	.	E	+	1	0	ANO1	69685402	1.000000	0.71417	0.982000	0.44146	0.954000	0.61252	9.291000	0.96070	2.329000	0.79093	0.561000	0.74099	GAG		0.537	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1		NM_018043		24	93	0	0	0	0.034045	0	24	93		
PHOX2A	401	broad.mit.edu	37	11	71950871	71950871	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr11:71950871G>A	ENST00000298231.5	-	3	948	c.777C>T	c.(775-777)tcC>tcT	p.S259S	PHOX2A_ENST00000544057.1_5'Flank	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	259					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						GCCCGGGGCCGGACTCCGCCG	0.726																																						uc001osh.3		NaN																	0					0						c.(775-777)TCC>TCT		paired-like homeobox 2a							3.0	4.0	3.0					11																	71950871		1593	3406	4999	SO:0001819	synonymous_variant	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71950871G>A	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.777C>T	11.37:g.71950871G>A							p.S259S	NM_005169	NP_005160	O14813	PHX2A_HUMAN			3	949	-			259					A8K3N0|Q8IVZ2	Silent	SNP	ENST00000298231.5	37	c.777C>T	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	g	6.022	0.372497	0.11409	.	.	ENSG00000165462	ENST00000546310	.	.	.	4.82	-0.84	0.10755	.	.	.	.	.	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	.	2.1168	0.03715	0.1433:0.2327:0.3855:0.2385	.	.	.	.	W	60	.	.	R	-	1	2	PHOX2A	71628519	0.990000	0.36364	0.981000	0.43875	0.339000	0.28857	0.339000	0.19875	-0.132000	0.11557	-0.467000	0.05162	CGG		0.726	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1		NM_005169		11	2	0	0	0	0.010729	0	11	2		
KCNA6	3742	broad.mit.edu	37	12	4920778	4920778	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:4920778G>C	ENST00000280684.3	+	1	2437	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R524T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	524					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCAGAGAAAAGAATGCTCACG	0.562										HNSCC(72;0.22)																												uc001qng.2		NaN																	0				skin(2)|ovary(1)	3						c.(1570-1572)AGA>ACA		potassium voltage-gated channel, shaker-related							52.0	56.0	55.0					12																	4920778		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920778G>C	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1571G>C	12.37:g.4920778G>C	ENSP00000280684:p.Arg524Thr	HNSCC(72;0.22)					p.R524T	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2437	+			524						Missense_Mutation	SNP	ENST00000280684.3	37	c.1571G>C	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573699	0.28092	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97430	-4.38;-4.38	4.97	4.97	0.65823	.	0.385414	0.26967	N	0.021599	D	0.92922	0.7748	L	0.36672	1.1	0.33233	D	0.556215	P	0.36483	0.555	B	0.33799	0.17	D	0.93857	0.7150	10	0.66056	D	0.02	.	6.8284	0.23897	0.1858:0.0:0.8142:0.0	.	524	P17658	KCNA6_HUMAN	T	524	ENSP00000408321:R524T;ENSP00000280684:R524T	ENSP00000280684:R524T	R	+	2	0	KCNA6	4791039	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	3.236000	0.51336	2.578000	0.87016	0.655000	0.94253	AGA		0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1		NM_002235		20	66	0	0	0	0.014323	0	20	66		
PLEKHA5	54477	broad.mit.edu	37	12	19473505	19473505	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:19473505G>C	ENST00000299275.6	+	13	1861	c.1855G>C	c.(1855-1857)Gat>Cat	p.D619H	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D722H|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.D677H|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D619H|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D538H|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D377H|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D677H|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D550H|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D619H	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	619					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCTGTCACAAGATGAAGGTAG	0.264																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1855-1857)GAT>CAT		pleckstrin homology domain containing, family A							137.0	150.0	146.0					12																	19473505		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19473505G>C	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1855G>C	12.37:g.19473505G>C	ENSP00000299275:p.Asp619His					PLEKHA5_uc010sie.1_Missense_Mutation_p.D722H|PLEKHA5_uc001rea.2_Missense_Mutation_p.D677H|PLEKHA5_uc009zin.2_Missense_Mutation_p.D377H|PLEKHA5_uc010sif.1_Missense_Mutation_p.D550H|PLEKHA5_uc010sig.1_Missense_Mutation_p.D538H|PLEKHA5_uc010sih.1_Missense_Mutation_p.D511H|PLEKHA5_uc001rec.1_Missense_Mutation_p.D365H|PLEKHA5_uc009zio.2_5'Flank	p.D619H	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			13	1941	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		619					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1855G>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711823	0.68730	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T	0.37411	2.52;1.29;2.52;2.42;2.52;2.52;1.29;1.2;1.24;2.52	4.6	4.6	0.57074	.	0.681137	0.15386	N	0.265093	T	0.44787	0.1310	L	0.42245	1.32	0.34676	D	0.724189	P;B;B;P;P;B;B	0.48089	0.905;0.11;0.005;0.863;0.863;0.042;0.041	P;B;B;P;P;B;B	0.52217	0.693;0.099;0.019;0.606;0.681;0.03;0.099	T	0.56038	-0.8045	10	0.48119	T	0.1	-14.4885	15.7747	0.78204	0.0:0.0:1.0:0.0	.	619;538;550;722;722;619;677	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	H	619;677;619;723;722;619;377;677;550;538;511	ENSP00000325155:D619H;ENSP00000347560:D677H;ENSP00000352104:D619H;ENSP00000404296:D722H;ENSP00000299275:D619H;ENSP00000440611:D377H;ENSP00000439673:D677H;ENSP00000400411:D550H;ENSP00000439837:D538H;ENSP00000440371:D511H	ENSP00000299275:D619H	D	+	1	0	PLEKHA5	19364772	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.804000	0.85993	2.377000	0.81083	0.655000	0.94253	GAT		0.264	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012		14	126	0	0	0	0.016723	0	14	126		
CCDC65	85478	broad.mit.edu	37	12	49315100	49315100	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:49315100C>G	ENST00000320516.4	+	8	1517	c.1329C>G	c.(1327-1329)atC>atG	p.I443M	CCDC65_ENST00000266984.5_Missense_Mutation_p.I443M|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	443										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TGGATGGCATCTCAGTGAGTG	0.498																																						uc001rso.2		NaN																	0				ovary(1)|skin(1)	2						c.(1327-1329)ATC>ATG		coiled-coil domain containing 65							108.0	92.0	97.0					12																	49315100		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49315100C>G		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1329C>G	12.37:g.49315100C>G	ENSP00000312706:p.Ile443Met						p.I443M	NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN			8	1556	+			443					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.1329C>G	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901654	0.72754	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.02498	4.27;4.27;4.27	5.65	4.76	0.60689	.	0.241630	0.43747	D	0.000521	T	0.13927	0.0337	M	0.73962	2.25	0.40941	D	0.984462	D	0.89917	1.0	D	0.76575	0.988	T	0.00923	-1.1513	10	0.49607	T	0.09	-21.0673	13.8672	0.63596	0.0:0.9251:0.0:0.0749	.	443	Q8IXS2	CCD65_HUMAN	M	443;340;443	ENSP00000266984:I443M;ENSP00000446569:I340M;ENSP00000312706:I443M	ENSP00000266984:I443M	I	+	3	3	CCDC65	47601367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.404000	0.34623	1.537000	0.49254	0.591000	0.81541	ATC		0.498	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1		NM_033124		14	49	0	0	0	0.024245	0	14	49		
SCN8A	6334	broad.mit.edu	37	12	52200276	52200276	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:52200276G>A	ENST00000354534.6	+	27	5184	c.5006G>A	c.(5005-5007)gGg>gAg	p.G1669E	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1628E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1669					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCCATTTTTGGGATGTCCAAT	0.458																																						uc001ryw.2		NaN																	0				ovary(7)	7						c.(5005-5007)GGG>GAG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						168.0	169.0	169.0					12																	52200276		2203	4300	6503	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200276G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5006G>A	12.37:g.52200276G>A	ENSP00000346534:p.Gly1669Glu						p.G1669E	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5184	+			1669			IV.|Helical; Name=S5 of repeat IV; (Potential).		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5006G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262431	0.59431	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.97642	-4.47;-4.47	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98329	1.0532	10	0.87932	D	0	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	1669	Q9UQD0	SCN8A_HUMAN	E	1669;1628	ENSP00000346534:G1669E;ENSP00000440360:G1628E	ENSP00000346534:G1669E	G	+	2	0	SCN8A	50486543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGG		0.458	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3		NM_014191		12	90	0	0	0	0.010729	0	12	90		
SCN8A	6334	broad.mit.edu	37	12	52200727	52200727	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:52200727C>T	ENST00000354534.6	+	27	5635	c.5457C>T	c.(5455-5457)ctC>ctT	p.L1819L	SCN8A_ENST00000545061.1_Silent_p.L1778L|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1819					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AGCATCCTCTCCGAGTGCCCA	0.527																																						uc001ryw.2		NaN																	0				ovary(7)	7						c.(5455-5457)CTC>CTT		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						71.0	72.0	72.0					12																	52200727		2150	4281	6431	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200727C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5457C>T	12.37:g.52200727C>T							p.L1819L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5635	+			1819					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5457C>T	CCDS44891.1																																																																																				0.527	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3		NM_014191		42	47	0	0	0	0.030466	0	42	47		
MBD6	114785	broad.mit.edu	37	12	57918191	57918191	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:57918191C>G	ENST00000355673.3	+	3	461	c.105C>G	c.(103-105)ctC>ctG	p.L35L	MBD6_ENST00000431731.2_Silent_p.L35L|MBD6_ENST00000549231.1_3'UTR	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	35	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTGCTGTGCTCTACATCAGGT	0.587																																						uc001soj.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(103-105)CTC>CTG		methyl-CpG binding domain protein 6							54.0	47.0	49.0					12																	57918191		2203	4300	6503	SO:0001819	synonymous_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57918191C>G	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.105C>G	12.37:g.57918191C>G						MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank	p.L35L	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			3	329	+			35			MBD.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.105C>G	CCDS8944.1																																																																																				0.587	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1				6	41	0	0	0	0.02938	0	6	41		
CAND1	55832	broad.mit.edu	37	12	67703818	67703818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:67703818G>T	ENST00000545606.1	+	12	3600	c.3163G>T	c.(3163-3165)Gaa>Taa	p.E1055*		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1055					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCTTTACAATGAAACAAAAGT	0.348																																						uc001stn.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(3163-3165)GAA>TAA		TIP120 protein							126.0	126.0	126.0					12																	67703818		2203	4299	6502	SO:0001587	stop_gained	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67703818G>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3163G>T	12.37:g.67703818G>T	ENSP00000442318:p.Glu1055*					CAND1_uc001sto.2_Nonsense_Mutation_p.E565*	p.E1055*	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	12	3600	+			1055			HEAT 25.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Nonsense_Mutation	SNP	ENST00000545606.1	37	c.3163G>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	43	10.158574	0.99349	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.7693	19.1103	0.93314	0.0:0.0:1.0:0.0	.	.	.	.	X	1055;1055;595	.	.	E	+	1	0	CAND1	65990085	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.779000	0.99018	2.581000	0.87130	0.655000	0.94253	GAA		0.348	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1		NM_018448		18	47	1	0	1.67942e-08	0.006122	1.79081e-08	18	47		
KIAA1033	23325	broad.mit.edu	37	12	105527601	105527601	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:105527601C>G	ENST00000332180.5	+	14	1340	c.1253C>G	c.(1252-1254)tCt>tGt	p.S418C		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAATGGAATCTATTTTGTCT	0.343																																						uc001tld.2		NaN																	0				kidney(1)|central_nervous_system(1)	2						c.(1252-1254)TCT>TGT		hypothetical protein LOC23325							187.0	181.0	182.0					12																	105527601		1852	4095	5947	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105527601C>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1253C>G	12.37:g.105527601C>G	ENSP00000328062:p.Ser418Cys					KIAA1033_uc010swr.1_Missense_Mutation_p.S418C|KIAA1033_uc010sws.1_Missense_Mutation_p.S230C	p.S418C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			14	1340	+			418						Missense_Mutation	SNP	ENST00000332180.5	37	c.1253C>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343470	0.82022	.	.	ENSG00000136051	ENST00000332180	T	0.37915	1.17	6.06	5.18	0.71444	.	0.047393	0.85682	D	0.000000	T	0.58793	0.2147	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.63056	-0.6722	10	0.72032	D	0.01	.	15.3458	0.74337	0.0:0.9335:0.0:0.0665	.	418;418	B7ZKT9;Q2M389	.;WASH7_HUMAN	C	418	ENSP00000328062:S418C	ENSP00000328062:S418C	S	+	2	0	KIAA1033	104051731	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.814000	0.86154	1.575000	0.49775	-0.136000	0.14681	TCT		0.343	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4		NM_015275		22	49	0	0	0	0.010504	0	22	49		
DDX54	79039	broad.mit.edu	37	12	113596723	113596723	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:113596723C>G	ENST00000306014.5	-	20	2632	c.2605G>C	c.(2605-2607)Ggt>Cgt	p.G869R	DDX54_ENST00000314045.7_Missense_Mutation_p.G870R|Y_RNA_ENST00000363029.1_RNA|DDX54_ENST00000549271.1_5'UTR|CCDC42B_ENST00000335621.6_3'UTR	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	869					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GAGCGGGCACCCCGGCCGAAG	0.672																																						uc001tup.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2605-2607)GGT>CGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							20.0	26.0	24.0					12																	113596723		2203	4294	6497	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113596723C>G	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2605G>C	12.37:g.113596723C>G	ENSP00000304072:p.Gly869Arg					CCDC42B_uc010sys.1_3'UTR|DDX54_uc001tuq.3_Missense_Mutation_p.G870R	p.G869R	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			20	2633	-			869					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2605G>C	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949681	0.53186	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.10099	2.91;2.92	4.53	4.53	0.55603	.	0.256704	0.38720	N	0.001599	T	0.14787	0.0357	L	0.52364	1.645	0.52501	D	0.999953	B;B	0.33583	0.418;0.194	B;B	0.37508	0.252;0.034	T	0.02877	-1.1099	10	0.59425	D	0.04	.	15.5929	0.76550	0.0:1.0:0.0:0.0	.	870;869	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	R	870;869	ENSP00000323858:G870R;ENSP00000304072:G869R	ENSP00000304072:G869R	G	-	1	0	DDX54	112081106	0.988000	0.35896	0.953000	0.39169	0.093000	0.18481	4.050000	0.57404	2.509000	0.84616	0.561000	0.74099	GGT		0.672	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1		NM_024072		6	34	0	0	0	0.004482	0	6	34		
MLEC	9761	broad.mit.edu	37	12	121132930	121132930	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:121132930C>G	ENST00000228506.3	+	4	1052	c.624C>G	c.(622-624)ctC>ctG	p.L208L	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	208					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TCTGTGCACTCTACATCATGG	0.498																																						uc001tyy.1		NaN																	0				ovary(1)	1						c.(622-624)CTC>CTG		malectin precursor							341.0	310.0	321.0					12																	121132930		2203	4300	6503	SO:0001819	synonymous_variant	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121132930C>G	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.624C>G	12.37:g.121132930C>G							p.L208L	NM_014730	NP_055545	Q14165	MLEC_HUMAN			4	775	+			208			Lumenal (Potential).			Silent	SNP	ENST00000228506.3	37	c.624C>G	CCDS9206.1																																																																																				0.498	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2		NM_014730		27	231	0	0	0	0.021523	0	27	231		
RSRC2	65117	broad.mit.edu	37	12	123005942	123005942	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:123005942C>G	ENST00000331738.7	-	3	342	c.197G>C	c.(196-198)aGa>aCa	p.R66T	RSRC2_ENST00000354654.2_Missense_Mutation_p.E11Q	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	66	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CTCTTTGCTTCTGCTCCGGCT	0.318																																						uc001ucr.2		NaN																	0				ovary(1)	1						c.(196-198)AGA>ACA		arginine/serine-rich coiled-coil 2 isoform a							91.0	86.0	88.0					12																	123005942		2202	4299	6501	SO:0001583	missense	65117							g.chr12:123005942C>G	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.197G>C	12.37:g.123005942C>G	ENSP00000330188:p.Arg66Thr					RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_5'UTR|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.E11Q|RSRC2_uc001ucu.2_Missense_Mutation_p.R66T	p.R66T	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	3	343	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		66			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.197G>C	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.58|14.58	2.577248|2.577248	0.45902|0.45902	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000354654;ENST00000528279|ENST00000331738;ENST00000418773	T|T	0.49139|0.19105	0.79|2.17	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.089423	.|0.85682	.|D	.|0.000000	T|T	0.32255|0.32255	0.0823|0.0823	N|N	0.24115|0.24115	0.695|0.695	0.29071|0.29071	N|N	0.883279|0.883279	D|D;D	0.52996|0.57899	0.957|0.981;0.981	P|D;D	0.48488|0.66351	0.579|0.943;0.943	T|T	0.10567|0.10567	-1.0624|-1.0624	9|10	0.48119|0.26408	T|T	0.1|0.33	.|.	19.2639|19.2639	0.93979|0.93979	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	11|66;66	Q7L4I2-2|F5GXM2;Q7L4I2	.|.;RSRC2_HUMAN	Q|T	11|66	ENSP00000346678:E11Q|ENSP00000330188:R66T	ENSP00000346678:E11Q|ENSP00000330188:R66T	E|R	-|-	1|2	0|0	RSRC2|RSRC2	121571895|121571895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.036000|7.036000	0.76524|0.76524	2.541000|2.541000	0.85698|0.85698	0.555000|0.555000	0.69702|0.69702	GAA|AGA		0.318	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3		NM_023012		16	32	0	0	0	0.006122	0	16	32		
GPR133	283383	broad.mit.edu	37	12	131490586	131490586	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr12:131490586A>C	ENST00000261654.5	+	12	1884	c.1325A>C	c.(1324-1326)cAc>cCc	p.H442P	GPR133_ENST00000535015.1_Missense_Mutation_p.H474P|GPR133_ENST00000376682.4_Missense_Mutation_p.H128P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	442					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGCCCGCCCACACCAAGTGA	0.647																																						uc001uit.3		NaN																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(1324-1326)CAC>CCC		G protein-coupled receptor 133 precursor							103.0	76.0	85.0					12																	131490586		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131490586A>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1325A>C	12.37:g.131490586A>C	ENSP00000261654:p.His442Pro					GPR133_uc010tbm.1_Missense_Mutation_p.H474P	p.H442P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	12	1884	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		442			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1325A>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.247432	0.39697	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.40476	1.05;1.05;1.03	4.56	-2.52	0.06346	.	0.696585	0.14066	N	0.343724	T	0.25044	0.0608	N	0.22421	0.69	0.20074	N	0.999937	B;B	0.21309	0.043;0.054	B;B	0.17722	0.019;0.005	T	0.16630	-1.0396	10	0.31617	T	0.26	.	11.04	0.47825	0.1828:0.0:0.8172:0.0	.	474;442	B7ZLF7;Q6QNK2	.;GP133_HUMAN	P	442;474;133;138;128	ENSP00000261654:H442P;ENSP00000444425:H474P;ENSP00000365872:H128P	ENSP00000261654:H442P	H	+	2	0	GPR133	130056539	0.000000	0.05858	0.010000	0.14722	0.499000	0.33736	0.028000	0.13644	-0.396000	0.07703	0.260000	0.18958	CAC		0.647	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		23	47	0	0	0	0.01892	0	23	47		
PARP4	143	broad.mit.edu	37	13	25021310	25021310	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:25021310C>T	ENST00000381989.3	-	26	3234	c.3129G>A	c.(3127-3129)atG>atA	p.M1043I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1043	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.M1043I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATAGCCTGGTCATTTGGTCTT	0.433																																						uc001upl.2		NaN																	1	Substitution - Missense(1)	p.M1043I(1)	ovary(1)	ovary(3)|skin(1)	4						c.(3127-3129)ATG>ATA		poly (ADP-ribose) polymerase family, member 4							52.0	52.0	52.0					13																	25021310		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25021310C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3129G>A	13.37:g.25021310C>T	ENSP00000371419:p.Met1043Ile						p.M1043I	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	26	3235	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1043			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.3129G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762010	0.31228	.	.	ENSG00000102699	ENST00000381989	T	0.19806	2.12	4.71	3.83	0.44106	von Willebrand factor, type A (2);	0.176061	0.53938	N	0.000053	T	0.35189	0.0923	L	0.45137	1.4	0.31052	N	0.715111	D	0.53885	0.963	D	0.69824	0.966	T	0.22765	-1.0207	10	0.35671	T	0.21	-17.5504	12.602	0.56503	0.0:0.8313:0.1687:0.0	.	1043	Q9UKK3	PARP4_HUMAN	I	1043	ENSP00000371419:M1043I	ENSP00000371419:M1043I	M	-	3	0	PARP4	23919310	0.010000	0.17322	0.331000	0.25455	0.424000	0.31475	1.331000	0.33793	1.280000	0.44463	0.644000	0.83932	ATG		0.433	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437		5	41	0	0	0	0.021553	0	5	41		
MTUS2	23281	broad.mit.edu	37	13	29600135	29600135	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:29600135G>A	ENST00000431530.3	+	1	1388	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	434						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCACCAGGTGACAGTCATGT	0.488																																						uc001usl.3		NaN																	0					0						c.(1330-1332)GAC>AAC		hypothetical protein LOC23281 isoform a							53.0	53.0	53.0					13																	29600135		1923	4131	6054	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600135G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1330G>A	13.37:g.29600135G>A	ENSP00000392057:p.Asp444Asn						p.D444N	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	1388	+			434					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1330G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	13.23	2.175538	0.38413	.	.	ENSG00000132938	ENST00000431530	T	0.14022	2.54	5.49	4.64	0.57946	.	0.813692	0.10738	N	0.639776	T	0.14527	0.0351	L	0.44542	1.39	0.31910	N	0.614823	P	0.35272	0.493	B	0.35607	0.206	T	0.09465	-1.0673	9	.	.	.	.	11.5593	0.50768	0.0827:0.0:0.9173:0.0	.	434	Q5JR59	MTUS2_HUMAN	N	444	ENSP00000392057:D444N	.	D	+	1	0	MTUS2	28498135	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.315000	0.33608	1.307000	0.44944	0.655000	0.94253	GAC		0.488	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3		XM_166270		9	44	0	0	0	0.008291	0	9	44		
FOXO1	2308	broad.mit.edu	37	13	41133687	41133687	+	Silent	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:41133687T>C	ENST00000379561.5	-	2	2325	c.1941A>G	c.(1939-1941)acA>acG	p.T647T	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	647					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TATGTGTCGTTGTCTTGACAC	0.428																																						uc001uxl.3		NaN																PAX3/FOXO1(749)|PAX7/FOXO1(197)	0				soft_tissue(946)|lung(1)|central_nervous_system(1)	948						c.(1939-1941)ACA>ACG		forkhead box O1							148.0	128.0	135.0					13																	41133687		2203	4300	6503	SO:0001819	synonymous_variant	2308				anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr13:41133687T>C		CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1941A>G	13.37:g.41133687T>C						FOXO1_uc010acc.1_Silent_p.T462T	p.T647T	NM_002015	NP_002006	Q12778	FOXO1_HUMAN		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)	2	2326	-		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	647					O43523|Q5VYC7|Q6NSK6	Silent	SNP	ENST00000379561.5	37	c.1941A>G	CCDS9371.1																																																																																				0.428	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3		NM_002015		40	56	0	0	0	0.01441	0	40	56		
COG3	83548	broad.mit.edu	37	13	46039343	46039343	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:46039343G>A	ENST00000349995.5	+	1	284	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	58					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GGTGCCAGCTGAGGTGAGGTG	0.692																																					Ovarian(150;1048 1859 18083 21577 42700)	uc001vak.2		NaN																	0				breast(1)|skin(1)	2						c.(172-174)GAG>AAG		component of golgi transport complex 3							20.0	27.0	24.0					13																	46039343		2202	4299	6501	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46039343G>A	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.172G>A	13.37:g.46039343G>A	ENSP00000258654:p.Glu58Lys					COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.E58K|COG3_uc001vaj.1_Missense_Mutation_p.E58K|COG3_uc010tfv.1_5'UTR	p.E58K	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	1	273	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	58					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.172G>A	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293465	0.23564	.	.	ENSG00000136152	ENST00000349995	T	0.42131	0.98	4.84	3.97	0.46021	.	0.062128	0.64402	D	0.000007	T	0.34279	0.0892	L	0.56769	1.78	0.58432	D	0.999995	B;P;B	0.37731	0.002;0.607;0.012	B;B;B	0.36378	0.002;0.223;0.007	T	0.17899	-1.0354	10	0.05959	T	0.93	-10.9287	12.7157	0.57113	0.0:0.167:0.833:0.0	.	58;58;58	Q96JB2;B4DH72;Q96JB2-2	COG3_HUMAN;.;.	K	58	ENSP00000258654:E58K	ENSP00000258654:E58K	E	+	1	0	COG3	44937344	1.000000	0.71417	0.996000	0.52242	0.108000	0.19459	5.303000	0.65738	1.213000	0.43380	0.563000	0.77884	GAG		0.692	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2				15	35	0	0	0	0.0333	0	15	35		
DCT	1638	broad.mit.edu	37	13	95114290	95114290	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:95114290G>A	ENST00000377028.5	-	5	1430	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Silent_p.F339F	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	339					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGTTCTGGAAGAAGGGAGGAT	0.448																																						uc001vlv.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1015-1017)TTC>TTT		dopachrome tautomerase isoform 1							119.0	110.0	113.0					13																	95114290		2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95114290G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1017C>T	13.37:g.95114290G>A						DCT_uc010afh.2_Silent_p.F339F	p.F339F	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	5	1444	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	339			Lumenal, melanosome (Potential).		Q09GT4	Silent	SNP	ENST00000377028.5	37	c.1017C>T	CCDS9470.1																																																																																				0.448	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3				12	37	0	0	0	0.010729	0	12	37		
ITGBL1	9358	broad.mit.edu	37	13	102106412	102106412	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:102106412G>A	ENST00000376180.3	+	2	496	c.277G>A	c.(277-279)Gag>Aag	p.E93K	ITGBL1_ENST00000545560.2_Intron	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	93	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAGTGCCATGAGTGGGTGTG	0.667																																						uc001vpb.2		NaN																	0				ovary(1)|skin(1)	2						c.(277-279)GAG>AAG		integrin, beta-like 1 (with EGF-like repeat							30.0	30.0	30.0					13																	102106412		2199	4298	6497	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102106412G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.277G>A	13.37:g.102106412G>A	ENSP00000365351:p.Glu93Lys					ITGBL1_uc010agb.2_Missense_Mutation_p.E93K|ITGBL1_uc001vpc.3_Intron	p.E93K	NM_004791	NP_004782	O95965	ITGBL_HUMAN			2	496	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		93			I.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.277G>A	CCDS9499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.261855|3.261855	0.59431|0.59431	.|.	.|.	ENSG00000198542|ENSG00000198542	ENST00000376180|ENST00000537118	D|.	0.92805|.	-3.11|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.350620|.	0.35436|.	N|.	0.003201|.	T|T	0.64182|0.64182	0.2575|0.2575	L|L	0.45422|0.45422	1.42|1.42	0.80722|0.80722	D|D	1|1	B|.	0.32717|.	0.381|.	B|.	0.26416|.	0.069|.	T|T	0.65651|0.65651	-0.6116|-0.6116	10|6	0.14252|0.87932	T|D	0.57|0	.|.	15.2363|15.2363	0.73432|0.73432	0.0687:0.0:0.9313:0.0|0.0687:0.0:0.9313:0.0	.|.	93|.	O95965|.	ITGBL_HUMAN|.	K|I	93|1	ENSP00000365351:E93K|.	ENSP00000365351:E93K|ENSP00000444152:M1I	E|M	+|+	1|3	0|0	ITGBL1|ITGBL1	100904413|100904413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	5.126000|5.126000	0.64721|0.64721	2.754000|2.754000	0.94517|0.94517	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.667	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2		NM_004791		4	10	0	0	0	0.02938	0	4	10		
SPACA7	122258	broad.mit.edu	37	13	113052394	113052394	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr13:113052394G>A	ENST00000283550.3	+	3	250	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SPACA7_ENST00000375699.3_Silent_p.L30L	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	61						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TTTTAGATCTGAATAAAACAA	0.473																																						uc001vsd.1		NaN																	0					0						c.(181-183)CTG>CTA		hypothetical protein LOC122258 precursor							146.0	139.0	142.0					13																	113052394		2203	4300	6503	SO:0001819	synonymous_variant	122258					extracellular region		g.chr13:113052394G>A	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.183G>A	13.37:g.113052394G>A							p.L61L	NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN			3	214	+	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)		61					Q5T8L1	Silent	SNP	ENST00000283550.3	37	c.183G>A	CCDS9524.1																																																																																				0.473	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2		NM_145248		29	100	0	0	0	0.012213	0	29	100		
RALGAPA1	253959	broad.mit.edu	37	14	36064860	36064860	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:36064860C>G	ENST00000389698.3	-	36	6061	c.5671G>C	c.(5671-5673)Gat>Cat	p.D1891H	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D1938H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1891	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAGAATCATCAGAATCAGAA	0.338																																						uc001wti.2		NaN																	0				ovary(3)|breast(1)	4						c.(5671-5673)GAT>CAT		Ral GTPase activating protein, alpha subunit 1							141.0	139.0	140.0					14																	36064860		2202	4299	6501	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36064860C>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5671G>C	14.37:g.36064860C>G	ENSP00000374348:p.Asp1891His					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.D1891H|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D1904H|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D1938H	p.D1891H	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			36	6062	-			1891			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5671G>C	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146655	0.77888	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.23	5.23	0.72850	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	M	0.86805	2.84	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;0.971;1.0	D;D;P;D	0.91635	0.999;0.998;0.832;0.989	D	0.99167	1.0863	10	0.72032	D	0.01	-18.6724	19.1928	0.93674	0.0:1.0:0.0:0.0	.	1938;1904;1891;1891	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	H	1891;1891;1891;1938;529;1904;1938	ENSP00000374348:D1891H;ENSP00000302647:D1891H;ENSP00000258840:D1938H;ENSP00000451133:D529H;ENSP00000371803:D1904H;ENSP00000451877:D1938H	ENSP00000258840:D1938H	D	-	1	0	RALGAPA1	35134611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.039000	0.70972	2.596000	0.87737	0.655000	0.94253	GAT		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022		6	59	0	0	0	0.004482	0	6	59		
PCNX	22990	broad.mit.edu	37	14	71443817	71443817	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:71443817C>T	ENST00000304743.2	+	6	1209	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	PCNX_ENST00000439984.3_Silent_p.L255L|PCNX_ENST00000238570.5_Silent_p.L255L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	255						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATCAGTCTCTGTCCAGCGC	0.502																																						uc001xmo.2		NaN																	0				ovary(1)	1						c.(763-765)CTG>TTG		pecanex-like 1							141.0	119.0	127.0					14																	71443817		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71443817C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.763C>T	14.37:g.71443817C>T						PCNX_uc001xmn.3_Silent_p.L255L|PCNX_uc010are.1_Silent_p.L255L	p.L255L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1209	+			255					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.763C>T	CCDS9806.1																																																																																				0.502	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982		10	23	0	0	0	0.006214	0	10	23		
CCNK	8812	broad.mit.edu	37	14	99967695	99967695	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:99967695G>C	ENST00000389879.5	+	6	643	c.520G>C	c.(520-522)Gat>Cat	p.D174H	CCNK_ENST00000555049.1_Missense_Mutation_p.D174H|CCNK_ENST00000557165.1_Intron	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	174					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATTTCTAGGTGATAAAAACAA	0.313																																						uc001ygi.3		NaN																	0					0						c.(520-522)GAT>CAT		cyclin K isoform 1							78.0	75.0	76.0					14																	99967695		1823	4082	5905	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99967695G>C	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.520G>C	14.37:g.99967695G>C	ENSP00000374529:p.Asp174His					CCNK_uc001ygg.3_Missense_Mutation_p.D174H	p.D174H	NM_001099402	NP_001092872	O75909	CCNK_HUMAN			6	650	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	174					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.520G>C	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713033	0.89112	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049	T;T;T	0.45668	0.89;0.89;0.89	6.07	6.07	0.98685	Cyclin-like (3);	0.099831	0.64402	D	0.000003	T	0.66005	0.2746	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.67103	0.949;0.898	T	0.65590	-0.6131	10	0.72032	D	0.01	-16.4127	20.6439	0.99570	0.0:0.0:1.0:0.0	.	174;174	O75909;O75909-2	CCNK_HUMAN;.	H	174	ENSP00000374529:D174H;ENSP00000450792:D174H;ENSP00000452307:D174H	ENSP00000216279:D174H	D	+	1	0	CCNK	99037448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.556000	0.98127	2.884000	0.98904	0.655000	0.94253	GAT		0.313	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1				9	15	0	0	0	0.006214	0	9	15		
CYP46A1	10858	broad.mit.edu	37	14	100157446	100157446	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:100157446T>C	ENST00000261835.3	+	2	252	c.148T>C	c.(148-150)Tgg>Cgg	p.W50R	RP11-543C4.3_ENST00000555875.1_lincRNA|CYP46A1_ENST00000423126.2_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	50					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCCCTGCTTTTGGAAAAAGGA	0.483																																						uc001ygo.2		NaN																	0					0						c.(148-150)TGG>CGG		cytochrome P450, family 46							335.0	276.0	296.0					14																	100157446		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100157446T>C	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.148T>C	14.37:g.100157446T>C	ENSP00000261835:p.Trp50Arg					CYP46A1_uc001ygn.1_5'UTR	p.W50R	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			2	148	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	50					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.148T>C	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.909|8.909	0.958302|0.958302	0.18507|0.18507	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835	.|T	.|0.65364	.|-0.15	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	.|0.400749	.|0.19862	.|N	.|0.104409	T|T	0.35480|0.35480	0.0933|0.0933	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.17852	.|0.024	.|B	.|0.22880	.|0.042	T|T	0.16897|0.16897	-1.0387|-1.0387	5|10	.|0.25106	.|T	.|0.35	.|.	8.9344|8.9344	0.35691|0.35691	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|50	.|Q9Y6A2	.|CP46A_HUMAN	S|R	36|50	.|ENSP00000261835:W50R	.|ENSP00000261835:W50R	L|W	+|+	2|1	0|0	CYP46A1|CYP46A1	99227199|99227199	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	2.012000|2.012000	0.40932|0.40932	1.881000|1.881000	0.54492|0.54492	0.460000|0.460000	0.39030|0.39030	TTG|TGG		0.483	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1				38	58	0	0	0	0.030466	0	38	58		
GABRB3	2562	broad.mit.edu	37	15	26792968	26792968	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:26792968A>T	ENST00000311550.5	-	9	1505	c.1394T>A	c.(1393-1395)tTa>tAa	p.L465*	GABRB3_ENST00000541819.2_Nonsense_Mutation_p.L521*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.L380*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.L394*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.L465*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	465					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGTAAACTAAGTTGAAAAG	0.353																																						uc001zaz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1393-1395)TTA>TAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						98.0	83.0	88.0					15																	26792968		2203	4300	6503	SO:0001587	stop_gained	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26792968A>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1394T>A	15.37:g.26792968A>T	ENSP00000308725:p.Leu465*					GABRB3_uc010uae.1_Nonsense_Mutation_p.L380*|GABRB3_uc001zba.2_Nonsense_Mutation_p.L465*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.L521*	p.L465*	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1536	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	465			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	37	c.1394T>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	A	33	5.196574	0.94960	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	.	.	.	6.03	6.03	0.97812	.	0.063543	0.64402	D	0.000009	.	.	.	.	.	.	0.50467	D	0.999875	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7393	0.77876	1.0:0.0:0.0:0.0	.	.	.	.	X	465;521;465;394;380	.	ENSP00000299267:L465X	L	-	2	0	GABRB3	24344061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.446000	0.80609	2.308000	0.77769	0.533000	0.62120	TTA		0.353	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2				22	32	0	0	0	0.014323	0	22	32		
TM6SF1	53346	broad.mit.edu	37	15	83776474	83776474	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:83776474C>T	ENST00000322019.9	+	1	316	c.42C>T	c.(40-42)ctC>ctT	p.L14L	TM6SF1_ENST00000565774.1_Silent_p.L14L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Silent_p.L14L|TM6SF1_ENST00000379390.6_Silent_p.L14L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	14						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGCTGTCCCTCTCGGCCATCC	0.736																																						uc002bjp.2		NaN																	0				ovary(1)	1						c.(40-42)CTC>CTT		transmembrane 6 superfamily member 1 isoform 1							29.0	27.0	28.0					15																	83776474		2200	4300	6500	SO:0001819	synonymous_variant	53346					integral to membrane		g.chr15:83776474C>T	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.42C>T	15.37:g.83776474C>T						TM6SF1_uc010bmq.2_Silent_p.L14L|TM6SF1_uc002bjq.2_Silent_p.L14L|TM6SF1_uc010bmr.2_RNA	p.L14L	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN			1	151	+			14			Helical; (Potential).		A8K7T5|H3BU56|Q4U0U5	Silent	SNP	ENST00000322019.9	37	c.42C>T	CCDS10323.1																																																																																				0.736	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1		NM_023003		6	12	0	0	0	0.021553	0	6	12		
MCTP2	55784	broad.mit.edu	37	15	94913372	94913372	+	Silent	SNP	T	T	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:94913372T>G	ENST00000357742.4	+	11	1545	c.1545T>G	c.(1543-1545)gtT>gtG	p.V515V	MCTP2_ENST00000331706.4_Silent_p.V103V|MCTP2_ENST00000557742.1_Silent_p.V103V|MCTP2_ENST00000451018.3_Silent_p.V515V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	515	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGTGAAGGTTTTAAAGGCAG	0.373																																						uc002btj.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1543-1545)GTT>GTG		multiple C2 domains, transmembrane 2 isoform 1							100.0	96.0	98.0					15																	94913372		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94913372T>G	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1545T>G	15.37:g.94913372T>G						MCTP2_uc002bti.2_Silent_p.V515V|MCTP2_uc010boj.2_Silent_p.V244V|MCTP2_uc010bok.2_Silent_p.V515V|MCTP2_uc002btk.3_Silent_p.V103V|MCTP2_uc002btl.2_Silent_p.V103V	p.V515V	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		11	1610	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		515			C2 3.		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.1545T>G	CCDS32338.1																																																																																				0.373	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3		NM_018349		7	26	0	0	0	0.004482	0	7	26		
JMJD8	339123	broad.mit.edu	37	16	732417	732417	+	3'UTR	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:732417C>T	ENST00000293882.4	-	0	1381				STUB1_ENST00000564370.1_Silent_p.L208L|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000219548.4_Silent_p.L280L|STUB1_ENST00000565677.1_Silent_p.L208L|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000609261.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.9_ENST00000567091.1_RNA			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						AGGAACAGCTCATCCCCAACT	0.587																																						uc002cit.2		NaN																	0					0						c.(838-840)CTC>CTT		STIP1 homology and U-box containing protein 1							91.0	82.0	85.0					16																	732417		2201	4300	6501	SO:0001624	3_prime_UTR_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:732417C>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.*377G>A	16.37:g.732417C>T						STUB1_uc002ciu.2_Silent_p.L208L|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	p.L280L	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			7	1251	+		Hepatocellular(780;0.00335)	280	L -> F (in Ref. 1; AAC18038).		U-box.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Silent	SNP	ENST00000293882.4	37	c.840C>T																																																																																					0.587	JMJD8-201	KNOWN	basic	protein_coding	protein_coding			NM_001005920		21	52	0	0	0	0.008871	0	21	52		
TSC2	7249	broad.mit.edu	37	16	2131631	2131631	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:2131631C>A	ENST00000219476.3	+	31	4276	c.3646C>A	c.(3646-3648)Ctc>Atc	p.L1216I	TSC2_ENST00000401874.2_Missense_Mutation_p.L1172I|TSC2_ENST00000382538.6_Missense_Mutation_p.L1124I|TSC2_ENST00000350773.4_Missense_Mutation_p.L1216I|TSC2_ENST00000353929.4_Missense_Mutation_p.L1173I|TSC2_ENST00000568454.1_Missense_Mutation_p.L1183I|TSC2_ENST00000439673.2_Missense_Mutation_p.L1136I	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1216					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.L1216I(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGAGAACCCGCTCAGCCCTTT	0.637			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2		NaN	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(2)		kidney(2)	central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(3646-3648)CTC>ATC		tuberous sclerosis 2 isoform 1							90.0	76.0	81.0					16																	2131631		2198	4297	6495	SO:0001583	missense	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2131631C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3646C>A	16.37:g.2131631C>A	ENSP00000219476:p.Leu1216Ile					TSC2_uc010bsd.2_Missense_Mutation_p.L1216I|TSC2_uc002coo.2_Missense_Mutation_p.L1172I|TSC2_uc010uvv.1_Missense_Mutation_p.L1136I|TSC2_uc010uvw.1_Missense_Mutation_p.L1124I|TSC2_uc002cop.2_Missense_Mutation_p.L972I|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank	p.L1216I	NM_000548	NP_000539	P49815	TSC2_HUMAN			31	3752	+		Hepatocellular(780;0.0202)	1216					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3646C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036471	0.54896	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89050	-2.33;-2.39;-2.46;-2.43;-2.32	4.7	4.7	0.59300	.	0.067492	0.64402	D	0.000008	D	0.93148	0.7818	L	0.57536	1.79	0.51233	D	0.999919	D;D;D;D;D;D	0.65815	0.983;0.99;0.995;0.99;0.993;0.982	P;P;D;P;D;D	0.77557	0.771;0.885;0.953;0.885;0.99;0.952	D	0.93360	0.6726	10	0.51188	T	0.08	-26.78	17.6634	0.88198	0.0:1.0:0.0:0.0	.	1124;1136;1216;1172;1172;1216	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	I	1216;1173;1173;1136;1124;1216	ENSP00000219476:L1216I;ENSP00000248099:L1173I;ENSP00000399232:L1136I;ENSP00000371978:L1124I;ENSP00000344383:L1216I	ENSP00000219476:L1216I	L	+	1	0	TSC2	2071632	1.000000	0.71417	0.944000	0.38274	0.977000	0.68977	5.939000	0.70179	2.174000	0.68829	0.561000	0.74099	CTC		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2		NM_000548		6	101	1	0	2.0095e-06	0.02938	2.11048e-06	6	101		
BFAR	51283	broad.mit.edu	37	16	14748942	14748942	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:14748942G>A	ENST00000261658.2	+	5	935	c.658G>A	c.(658-660)Gag>Aag	p.E220K	BFAR_ENST00000563971.1_Missense_Mutation_p.E95K|BFAR_ENST00000426842.2_Missense_Mutation_p.E92K	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	220	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AACTTTGACAGAGGAAGAATT	0.443																																						uc002dco.2		NaN																	0				ovary(1)|skin(1)	2						c.(658-660)GAG>AAG		bifunctional apoptosis regulator							91.0	100.0	97.0					16																	14748942		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14748942G>A	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.658G>A	16.37:g.14748942G>A	ENSP00000261658:p.Glu220Lys					BFAR_uc002dcp.2_Missense_Mutation_p.E95K|BFAR_uc010uzh.1_Missense_Mutation_p.E92K	p.E220K	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN			5	939	+			220			Lumenal (Potential).|SAM.		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.658G>A	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101638	0.56183	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.51574	0.7;0.7	5.31	5.31	0.75309	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.161988	0.53938	D	0.000059	T	0.62307	0.2417	M	0.73962	2.25	0.80722	D	1	B;P;P	0.49783	0.415;0.928;0.928	B;P;P	0.51974	0.285;0.686;0.57	T	0.65586	-0.6132	10	0.52906	T	0.07	.	17.9483	0.89045	0.0:0.0:1.0:0.0	.	92;220;220	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	K	220;92	ENSP00000261658:E220K;ENSP00000400634:E92K	ENSP00000261658:E220K	E	+	1	0	BFAR	14656443	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	9.561000	0.98142	2.480000	0.83734	0.313000	0.20887	GAG		0.443	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1		NM_016561		19	101	0	0	0	0.010504	0	19	101		
CDH8	1006	broad.mit.edu	37	16	61851482	61851482	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:61851482G>A	ENST00000577390.1	-	7	2132	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L	CDH8_ENST00000299345.6_Missense_Mutation_p.S393L|CDH8_ENST00000577730.1_Missense_Mutation_p.S393L|CDH8_ENST00000584337.1_Missense_Mutation_p.S393L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTAAGTCGGTGAAGAGAAGAC	0.498																																						uc002eog.1		NaN																	0				ovary(6)|skin(2)|breast(1)	9						c.(1177-1179)TCA>TTA		cadherin 8, type 2 preproprotein							103.0	88.0	93.0					16																	61851482		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851482G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1178C>T	16.37:g.61851482G>A	ENSP00000462701:p.Ser393Leu					CDH8_uc002eoh.2_Missense_Mutation_p.S162L	p.S393L	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1430	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	393			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1178C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944045	0.34283	.	.	ENSG00000150394	ENST00000299345	T	0.02631	4.22	6.17	6.17	0.99709	Cadherin (2);Cadherin-like (1);	0.114285	0.64402	D	0.000010	T	0.02807	0.0084	L	0.31578	0.945	0.42169	D	0.991637	P;B	0.41420	0.749;0.002	B;B	0.32465	0.146;0.01	T	0.60796	-0.7192	10	0.09590	T	0.72	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	209;393	Q3LID3;P55286	.;CADH8_HUMAN	L	393	ENSP00000299345:S393L	ENSP00000299345:S393L	S	-	2	0	CDH8	60408983	1.000000	0.71417	0.990000	0.47175	0.657000	0.38888	2.626000	0.46460	2.941000	0.99782	0.655000	0.94253	TCA		0.498	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796		19	44	0	0	0	0.008871	0	19	44		
DUS2	54920	broad.mit.edu	37	16	68071989	68071989	+	Silent	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:68071989G>T	ENST00000565263.1	+	3	557	c.63G>T	c.(61-63)cgG>cgT	p.R21R	DUS2_ENST00000432752.1_Silent_p.R21R|DUS2_ENST00000358896.6_Silent_p.R21R	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	21					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										CAATGGTTCGGGTAGGGACTC	0.473																																						uc002evi.2		NaN																	0					0						c.(61-63)CGG>CGT		dihydrouridine synthase 2-like, SMM1 homolog							139.0	124.0	129.0					16																	68071989		2198	4300	6498	SO:0001819	synonymous_variant	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68071989G>T		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.63G>T	16.37:g.68071989G>T						DUS2L_uc002evj.2_Silent_p.R21R|DUS2L_uc010vkk.1_Silent_p.R21R|DUS2L_uc010cez.2_5'UTR	p.R21R	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	3	212	+		Ovarian(137;0.192)	21					A8K3G3|Q4H4D9	Silent	SNP	ENST00000565263.1	37	c.63G>T	CCDS10859.1																																																																																				0.473	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2		NM_017803		20	36	1	0	4.26978e-12	0.01892	4.64783e-12	20	36		
ANKRD11	29123	broad.mit.edu	37	16	89351556	89351556	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr16:89351556C>T	ENST00000301030.4	-	9	1854	c.1394G>A	c.(1393-1395)aGa>aAa	p.R465K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R465K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	465					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGAACCTCTCTGCCTtttgt	0.502																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1393-1395)AGA>AAA		ankyrin repeat domain 11							31.0	34.0	33.0					16																	89351556		2198	4299	6497	SO:0001583	missense	29123					nucleus		g.chr16:89351556C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1394G>A	16.37:g.89351556C>T	ENSP00000301030:p.Arg465Lys					ANKRD11_uc002fmy.1_Missense_Mutation_p.R465K|ANKRD11_uc002fnc.1_Missense_Mutation_p.R465K|ANKRD11_uc002fnb.1_Missense_Mutation_p.R422K	p.R465K	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1855	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	465					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.1394G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	2.156	-0.393418	0.04899	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.18016	2.24;2.24	5.49	4.4	0.53042	.	0.101581	0.64402	N	0.000004	T	0.02649	0.0080	N	0.00057	-2.36	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37220	-0.9715	10	0.02654	T	1	.	10.6192	0.45470	0.0:0.077:0.0:0.923	.	84;465	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	K	465;465;84	ENSP00000301030:R465K;ENSP00000367581:R465K	ENSP00000301030:R465K	R	-	2	0	ANKRD11	87879057	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	4.986000	0.63851	0.932000	0.37266	-0.379000	0.06801	AGA		0.502	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		7	26	0	0	0	0.02938	0	7	26		
VPS53	55275	broad.mit.edu	37	17	465901	465901	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:465901G>A	ENST00000571805.1	-	14	1534	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	VPS53_ENST00000401468.3_Silent_p.A189A|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Silent_p.A268A|VPS53_ENST00000291074.5_Silent_p.A437A|VPS53_ENST00000437048.2_Silent_p.A466A			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	466				A -> T (in Ref. 2; AAK27973). {ECO:0000305}.	protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGGGGAGCACGGCACCCCCTT	0.552																																						uc002frn.2		NaN																	0					0						c.(1396-1398)GCC>GCT		vacuolar protein sorting 53 isoform 2							68.0	63.0	65.0					17																	465901		2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465901G>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1398C>T	17.37:g.465901G>A						VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.A466A|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.A437A|VPS53_uc002fro.2_Silent_p.A268A|VPS53_uc010cjp.1_Silent_p.A189A	p.A466A	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1545	-			466	A -> T (in Ref. 2; AAK27973).				A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.1398C>T																																																																																					0.552	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2		NM_018289		23	5	0	0	0	0.021523	0	23	5		
LLGL1	3996	broad.mit.edu	37	17	18137636	18137636	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:18137636C>T	ENST00000316843.4	+	7	860	c.764C>T	c.(763-765)tCa>tTa	p.S255L		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	255					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTGGTCAGCTCACACAGCGAT	0.647																																						uc002gsp.2		NaN																	0				breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6						c.(763-765)TCA>TTA		lethal giant larvae homolog 1							31.0	27.0	28.0					17																	18137636		2202	4299	6501	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18137636C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.764C>T	17.37:g.18137636C>T	ENSP00000321537:p.Ser255Leu						p.S255L	NM_004140	NP_004131	Q15334	L2GL1_HUMAN			7	825	+	all_neural(463;0.228)		255			WD 5.		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.764C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260533	0.80246	.	.	ENSG00000131899	ENST00000316843	T	0.67345	-0.26	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82884	0.5134	M	0.85041	2.73	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.80063	-0.1539	10	0.27785	T	0.31	-17.2117	19.8717	0.96853	0.0:1.0:0.0:0.0	.	255	Q15334	L2GL1_HUMAN	L	255	ENSP00000321537:S255L	ENSP00000321537:S255L	S	+	2	0	LLGL1	18078361	0.995000	0.38212	0.969000	0.41365	0.127000	0.20565	3.266000	0.51569	2.808000	0.96608	0.650000	0.86243	TCA		0.647	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3				9	4	0	0	0	0.004482	0	9	4		
KRT37	8688	broad.mit.edu	37	17	39580632	39580632	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:39580632G>A	ENST00000225550.3	-	1	143	c.144C>T	c.(142-144)aaC>aaT	p.N48N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	48	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CGTGTGCCACGTTGGCCAAGA	0.617																																						uc002hwp.1		NaN																	0				skin(1)	1						c.(142-144)AAC>AAT		keratin 37							50.0	50.0	50.0					17																	39580632		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580632G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.144C>T	17.37:g.39580632G>A						uc002hwo.1_RNA	p.N48N	NM_003770	NP_003761	O76014	KRT37_HUMAN			1	191	-		Breast(137;0.000496)	48			Head.			Silent	SNP	ENST00000225550.3	37	c.144C>T	CCDS32653.1																																																																																				0.617	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2		NM_003770		4	92	0	0	0	0.009096	0	4	92		
HDAC5	10014	broad.mit.edu	37	17	42165952	42165952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:42165952G>A	ENST00000393622.2	-	12	1733	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	HDAC5_ENST00000225983.6_Nonsense_Mutation_p.Q469*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.Q468*|HDAC5_ENST00000586802.1_Nonsense_Mutation_p.Q468*	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	468					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGTGGGGACTGCCCGTGGAGT	0.652																																						uc002ifd.1		NaN																	0				ovary(1)	1						c.(1402-1404)CAG>TAG		histone deacetylase 5 isoform 1							37.0	34.0	35.0					17																	42165952		2203	4300	6503	SO:0001587	stop_gained	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42165952G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1402C>T	17.37:g.42165952G>A	ENSP00000377244:p.Gln468*					HDAC5_uc002ife.1_Nonsense_Mutation_p.Q468*|HDAC5_uc002iff.1_Nonsense_Mutation_p.Q469*|HDAC5_uc010czp.1_Nonsense_Mutation_p.Q468*|HDAC5_uc002ifh.2_Nonsense_Mutation_p.Q468*	p.Q468*	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	12	1613	-		Breast(137;0.00637)|Prostate(33;0.0313)	468					C9JFV9|O60340|O60528|Q96DY4	Nonsense_Mutation	SNP	ENST00000393622.2	37	c.1402C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	41	8.702064	0.98920	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-15.7143	17.9807	0.89140	0.0:0.0:1.0:0.0	.	.	.	.	X	469;468;468	.	ENSP00000225983:Q469X	Q	-	1	0	HDAC5	39521478	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.831000	0.92068	2.551000	0.86045	0.491000	0.48974	CAG		0.652	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		NM_001015053		3	41	0	0	0	0.009096	0	3	41		
TOB1	10140	broad.mit.edu	37	17	48940765	48940765	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:48940765G>A	ENST00000268957.3	-	3	1042	c.614C>T	c.(613-615)tCt>tTt	p.S205F	TOB1_ENST00000499247.2_Missense_Mutation_p.S205F|TOB1_ENST00000509385.1_5'UTR	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	205					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTTGATGGGAGAAGTACGTGC	0.493																																					NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NaN																	0				large_intestine(1)	1						c.(613-615)TCT>TTT		transducer of ERBB2, 1							101.0	102.0	102.0					17																	48940765		2203	4300	6503	SO:0001583	missense	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940765G>A	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.614C>T	17.37:g.48940765G>A	ENSP00000268957:p.Ser205Phe					TOB1_uc010wmy.1_Missense_Mutation_p.S205F|TOB1_uc010wmz.1_Missense_Mutation_p.S205F	p.S205F	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	649	-			205					B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	c.614C>T	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550921	0.65311	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.53423	0.62;0.62	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	M	0.82323	2.585	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.75869	-0.3165	10	0.87932	D	0	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	205	P50616	TOB1_HUMAN	F	205	ENSP00000427695:S205F;ENSP00000268957:S205F	ENSP00000268957:S205F	S	-	2	0	TOB1	46295764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.770000	0.95276	0.655000	0.94253	TCT		0.493	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1				14	72	0	0	0	0.020292	0	14	72		
TOB1	10140	broad.mit.edu	37	17	48941123	48941123	+	Silent	SNP	G	G	A	rs551260645		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:48941123G>A	ENST00000268957.3	-	3	684	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	TOB1-AS1_ENST00000523470.1_RNA|TOB1_ENST00000499247.2_Silent_p.L86L|TOB1-AS1_ENST00000416263.3_RNA|TOB1_ENST00000509385.1_5'UTR	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	86	Important for nuclear localization. {ECO:0000250}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCCTGTGGCAGATTGCCACGA	0.433																																					NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NaN																	0				large_intestine(1)	1						c.(256-258)CTG>TTG		transducer of ERBB2, 1							208.0	176.0	187.0					17																	48941123		2203	4300	6503	SO:0001819	synonymous_variant	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48941123G>A	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.256C>T	17.37:g.48941123G>A						TOB1_uc010wmy.1_Silent_p.L86L|TOB1_uc010wmz.1_Silent_p.L86L	p.L86L	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	291	-			86					B2R9T0|D3DTY3|Q4KMQ0	Silent	SNP	ENST00000268957.3	37	c.256C>T	CCDS11576.1																																																																																				0.433	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1				33	90	0	0	0	0.017118	0	33	90		
SDK2	54549	broad.mit.edu	37	17	71386527	71386527	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr17:71386527C>A	ENST00000392650.3	-	29	4091	c.4091G>T	c.(4090-4092)gGc>gTc	p.G1364V	SDK2_ENST00000388726.3_Missense_Mutation_p.G1364V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1364	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G1364V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTGAGGCCCGTGGCTGT	0.647																																						uc010dfm.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4090-4092)GGC>GTC		sidekick 2							53.0	36.0	42.0					17																	71386527		2202	4300	6502	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71386527C>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4091G>T	17.37:g.71386527C>A	ENSP00000376421:p.Gly1364Val					SDK2_uc002jjt.3_Missense_Mutation_p.G523V|SDK2_uc010dfn.2_Missense_Mutation_p.G1043V	p.G1364V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			29	4091	-			1364			Fibronectin type-III 8.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4091G>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730660	0.48939	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.62232	0.04;0.04;0.04	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.220962	0.47455	D	0.000221	T	0.81758	0.4890	M	0.91406	3.205	0.80722	D	1	P;P;P	0.37985	0.598;0.613;0.559	B;P;P	0.56648	0.426;0.803;0.703	D	0.84091	0.0390	10	0.59425	D	0.04	.	14.0134	0.64511	0.0:0.8484:0.1516:0.0	.	1364;1364;1364	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	V	988;1364;1364;540;1364	ENSP00000376421:G1364V;ENSP00000373378:G1364V;ENSP00000407098:G540V	ENSP00000324967:G1364V	G	-	2	0	SDK2	68898122	0.020000	0.18652	0.997000	0.53966	0.109000	0.19521	1.021000	0.30040	2.430000	0.82344	0.561000	0.74099	GGC		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064		4	23	1	0	0.00909568	0.009096	0.00927316	4	23		
SALL3	27164	broad.mit.edu	37	18	76753543	76753543	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr18:76753543G>A	ENST00000537592.2	+	2	1552	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	SALL3_ENST00000536229.3_Missense_Mutation_p.V385M|SALL3_ENST00000575389.2_Missense_Mutation_p.V518M	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	518					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCAAGCCCGTGCTGCCCAC	0.721																																						uc002lmt.2		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1552-1554)GTG>ATG		sal-like 3							23.0	20.0	21.0					18																	76753543		2196	4299	6495	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753543G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1552G>A	18.37:g.76753543G>A	ENSP00000441823:p.Val518Met					SALL3_uc010dra.2_Missense_Mutation_p.V125M	p.V518M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1552	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	518					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1552G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187900	0.38609	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12255	2.7	5.39	4.51	0.55191	.	0.119123	0.35870	N	0.002921	T	0.38427	0.1040	M	0.84326	2.69	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;P	0.68192	0.956;0.877	T	0.29212	-1.0019	10	0.66056	D	0.02	-43.0023	13.5128	0.61522	0.0746:0.0:0.9254:0.0	.	250;518	F5GXY4;Q9BXA9	.;SALL3_HUMAN	M	518;518;250	ENSP00000441823:V518M	ENSP00000299466:V518M	V	+	1	0	SALL3	74854531	1.000000	0.71417	0.938000	0.37757	0.971000	0.66376	7.946000	0.87746	2.512000	0.84698	0.563000	0.77884	GTG		0.721	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1		NM_171999		4	7	0	0	0	0.014758	0	4	7		
ZNF208	7757	broad.mit.edu	37	19	22155504	22155504	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:22155504T>C	ENST00000397126.4	-	4	2480	c.2332A>G	c.(2332-2334)Aaa>Gaa	p.K778E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	778					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTTCACATTTGTAGGGTTTC	0.368																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(2032-2034)AAA>GAA		zinc finger protein 208							36.0	41.0	40.0					19																	22155504		2054	4219	6273	SO:0001583	missense	7757							g.chr19:22155504T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2332A>G	19.37:g.22155504T>C	ENSP00000380315:p.Lys778Glu					ZNF208_uc002nqo.1_Intron	p.K678E	NM_007153	NP_009084					5	2181	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2032A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.843653	0.00068	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35973	1.28	2.28	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43853	0.1266	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.79784	0.993	T	0.29852	-0.9998	8	0.19147	T	0.46	.	5.2923	0.15733	0.0:0.2938:0.0:0.7062	.	678	O43345	ZN208_HUMAN	E	778;678	ENSP00000380315:K778E	ENSP00000380315:K778E	K	-	1	0	ZNF208	21947344	0.000000	0.05858	0.265000	0.24526	0.124000	0.20399	-3.062000	0.00623	0.705000	0.31890	0.232000	0.17820	AAA		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		3	26	0	0	0	0.004672	0	3	26		
ZNF829	374899	broad.mit.edu	37	19	37383084	37383084	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:37383084C>G	ENST00000391711.3	-	6	973	c.609G>C	c.(607-609)caG>caC	p.Q203H	ZNF829_ENST00000520965.1_Missense_Mutation_p.Q284H|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGAATCCTCTGATGTCGAG	0.383																																						uc002ofa.1		NaN																	0					0						c.(607-609)CAG>CAC		zinc finger protein 829							66.0	67.0	67.0					19																	37383084		2177	4286	6463	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37383084C>G	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.609G>C	19.37:g.37383084C>G	ENSP00000429266:p.Gln203His					ZNF345_uc002oez.2_Intron	p.Q203H	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	971	-	Esophageal squamous(110;0.183)		203			C2H2-type 2; degenerate.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.609G>C	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	5.867	0.344122	0.11126	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.18502	2.21	3.41	1.25	0.21368	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17280	0.0415	M	0.71920	2.185	0.22317	N	0.999209	B	0.14438	0.01	B	0.09377	0.004	T	0.29027	-1.0025	9	0.54805	T	0.06	.	3.5682	0.07908	0.0:0.4768:0.193:0.3302	.	203	Q3KNS6	ZN829_HUMAN	H	203	ENSP00000429266:Q203H	ENSP00000429266:Q203H	Q	-	3	2	ZNF829	42074924	0.000000	0.05858	0.948000	0.38648	0.300000	0.27592	-0.107000	0.10873	0.443000	0.26582	-0.142000	0.14014	CAG		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3		NM_001037232		14	43	0	0	0	0.024245	0	14	43		
SPTBN4	57731	broad.mit.edu	37	19	41040194	41040194	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:41040194G>C	ENST00000352632.3	+	20	4389	c.4303G>C	c.(4303-4305)Gac>Cac	p.D1435H	SPTBN4_ENST00000392023.1_Missense_Mutation_p.D111H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D1435H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D1435H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.D178H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D1435H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1435					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCTGCAAGACGTGGACCC	0.582																																						uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4303-4305)GAC>CAC		spectrin, beta, non-erythrocytic 4 isoform							46.0	41.0	42.0					19																	41040194		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41040194G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4303G>C	19.37:g.41040194G>C	ENSP00000263373:p.Asp1435His					SPTBN4_uc002onx.2_Missense_Mutation_p.D1435H|SPTBN4_uc002onz.2_Missense_Mutation_p.D1435H|SPTBN4_uc010egx.2_Missense_Mutation_p.D178H|SPTBN4_uc010egy.1_Missense_Mutation_p.D111H|SPTBN4_uc002ooa.2_Missense_Mutation_p.D111H|SPTBN4_uc010egz.1_Missense_Mutation_p.D111H	p.D1435H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		20	4389	+			1435			Spectrin 12.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.4303G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081873	0.36758	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.03	5.03	0.67393	.	0.235349	0.30118	N	0.010376	T	0.20700	0.0498	N	0.02011	-0.69	0.32186	N	0.579794	B;B;B;B;B;B	0.27013	0.149;0.027;0.033;0.0;0.166;0.157	B;B;B;B;B;B	0.25987	0.032;0.014;0.024;0.0;0.038;0.065	T	0.11470	-1.0586	10	0.62326	D	0.03	.	7.1045	0.25356	0.0892:0.175:0.7357:0.0	.	1435;178;178;111;1435;1435	E9PDB1;Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;.;SPTN4_HUMAN;.	H	1435;1435;1435;178;111	ENSP00000263373:D1435H;ENSP00000340345:D1435H;ENSP00000375879:D178H;ENSP00000375877:D111H	ENSP00000340345:D1435H	D	+	1	0	SPTBN4	45732034	0.752000	0.28338	1.000000	0.80357	0.994000	0.84299	1.105000	0.31086	2.614000	0.88457	0.561000	0.74099	GAC		0.582	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				8	46	0	0	0	0.006214	0	8	46		
CYP2F1	1572	broad.mit.edu	37	19	41631523	41631523	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:41631523C>T	ENST00000331105.2	+	9	1350	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	426					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GTCCAGCCTTCATGCCCTTCT	0.527																																						uc002opu.1		NaN																	0					0						c.(1276-1278)TTC>TTT		cytochrome P450, family 2, subfamily F,							40.0	48.0	45.0					19																	41631523		2203	4297	6500	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41631523C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1278C>T	19.37:g.41631523C>T						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	p.F426F	NM_000774	NP_000765	P24903	CP2F1_HUMAN			9	1334	+			426					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1278C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	0.186	-1.057927	0.01965	.	.	ENSG00000197446	ENST00000439903	.	.	.	3.19	2.14	0.27477	.	.	.	.	.	T	0.52025	0.1709	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41088	-0.9528	4	.	.	.	.	5.2008	0.15262	0.0:0.7198:0.0:0.2802	.	.	.	.	Y	60	.	.	H	+	1	0	CYP2F1	46323363	0.298000	0.24417	1.000000	0.80357	0.046000	0.14306	0.690000	0.25451	0.564000	0.29238	0.089000	0.15464	CAT		0.527	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2				10	95	0	0	0	0.037714	0	10	95		
MBOAT7	79143	broad.mit.edu	37	19	54692145	54692145	+	Silent	SNP	G	G	A	rs568163323		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:54692145G>A	ENST00000245615.1	-	3	612	c.132C>T	c.(130-132)ttC>ttT	p.F44F	TSEN34_ENST00000302937.4_5'Flank|TSEN34_ENST00000396388.2_5'Flank|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000474910.1_5'UTR|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.H14Y|MBOAT7_ENST00000338624.6_Missense_Mutation_p.H14Y|MBOAT7_ENST00000391754.1_Silent_p.F44F	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	44					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCCACAGGTGAACAGGGTGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		15620	0.0		0.0	False		,,,				2504	0.001				NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NaN																	0					0						c.(130-132)TTC>TTT		membrane bound O-acyltransferase domain							42.0	47.0	45.0					19																	54692145		2203	4300	6503	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692145G>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.132C>T	19.37:g.54692145G>A						MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Silent_p.F26F|MBOAT7_uc002qdr.2_Silent_p.F44F|MBOAT7_uc002qds.2_Missense_Mutation_p.H14Y|MBOAT7_uc010yen.1_Missense_Mutation_p.H14Y|MBOAT7_uc002qdt.3_Silent_p.F44F|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank|TSEN34_uc002qdw.2_5'Flank	p.F44F	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			4	398	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		44			Helical; (Potential).		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.132C>T	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761072	0.31137	.	.	ENSG00000125505	ENST00000431666;ENST00000338624	T;T	0.18960	2.18;2.18	4.43	3.3	0.37823	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.21473	N	0.999679	B	0.10296	0.003	B	0.12156	0.007	T	0.08680	-1.0710	8	0.66056	D	0.02	-23.8406	7.0802	0.25227	0.0963:0.1769:0.7268:0.0	.	14	Q96N66-2	.	Y	14	ENSP00000410503:H14Y;ENSP00000344377:H14Y	ENSP00000344377:H14Y	H	-	1	0	MBOAT7	59383957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.967000	0.29344	2.234000	0.73211	0.549000	0.68633	CAC		0.627	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1		NM_024298		15	44	0	0	0	0.020292	0	15	44		
NLRP8	126205	broad.mit.edu	37	19	56466904	56466904	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr19:56466904C>T	ENST00000291971.3	+	3	1551	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	NLRP8_ENST00000590542.1_Missense_Mutation_p.R494W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	494	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGTATTCTTCGGAGAATTGC	0.468																																						uc002qmh.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1480-1482)CGG>TGG		NLR family, pyrin domain containing 8							172.0	158.0	163.0					19																	56466904		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466904C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1480C>T	19.37:g.56466904C>T	ENSP00000291971:p.Arg494Trp					NLRP8_uc010etg.2_Missense_Mutation_p.R494W	p.R494W	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1551	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	494			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1480C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017611	0.35606	.	.	ENSG00000179709	ENST00000291971	D	0.85629	-2.01	2.04	0.992	0.19819	.	.	.	.	.	D	0.88492	0.6451	M	0.69358	2.11	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.952	T	0.76285	-0.3015	9	0.66056	D	0.02	.	4.329	0.11053	0.0:0.7984:0.0:0.2016	.	494;494	Q86W28-2;Q86W28	.;NALP8_HUMAN	W	494	ENSP00000291971:R494W	ENSP00000291971:R494W	R	+	1	2	NLRP8	61158716	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.053000	0.14184	0.419000	0.25927	0.514000	0.50259	CGG		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811		14	159	0	0	0	0.020292	0	14	159		
PXDN	7837	broad.mit.edu	37	2	1652231	1652232	+	Missense_Mutation	DNP	CC	CC	AG	rs571027818		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:1652231_1652232CC>AG	ENST00000252804.4	-	17	3370_3371	c.3320_3321GG>CT	c.(3319-3321)cGG>cCT	p.R1107P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1107					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CATTCACAATCCGGAAGGGAGA	0.589																																						uc002qxa.2		NaN																	0				pancreas(6)|ovary(2)	8						c.(3319-3321)CGG>CCT		peroxidasin precursor																																				SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652231_1652232CC>AG	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3320_3321delinsAG	2.37:g.1652231_1652232delinsAG	ENSP00000252804:p.Arg1107Pro						p.R1107P	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3384_3385	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1107					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	DNP	ENST00000252804.4	37	c.3320_3321GG>CT	CCDS46221.1																																																																																				0.589	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455		13	21	0	0	0	0.004672	0	13	21		
OTX1	5013	broad.mit.edu	37	2	63282824	63282824	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:63282824C>T	ENST00000282549.2	+	5	714	c.438C>T	c.(436-438)tcC>tcT	p.S146S	OTX1_ENST00000366671.3_Silent_p.S146S	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	146					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCAGCTCTTCCGCCAACCCAG	0.677																																						uc002scd.2		NaN																	0				pancreas(2)	2						c.(436-438)TCC>TCT		orthodenticle homeobox 1							25.0	27.0	26.0					2																	63282824		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282824C>T		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.438C>T	2.37:g.63282824C>T						OTX1_uc010ypt.1_Silent_p.S80S	p.S146S	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	686	+	Lung NSC(7;0.121)|all_lung(7;0.211)		146					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.438C>T	CCDS1873.1																																																																																				0.677	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1				14	22	0	0	0	0.028581	0	14	22		
SLC1A4	6509	broad.mit.edu	37	2	65245358	65245358	+	Silent	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:65245358C>G	ENST00000234256.3	+	6	1431	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L	SLC1A4_ENST00000531327.1_Silent_p.L98L	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	396					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TTGCGCAACTCAACAACGTAG	0.498																																						uc010yqa.1		NaN																	0				pancreas(1)	1						c.(1186-1188)CTC>CTG		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						141.0	130.0	133.0					2																	65245358		2203	4300	6503	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65245358C>G		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1188C>G	2.37:g.65245358C>G						SLC1A4_uc010ypy.1_Silent_p.L176L|SLC1A4_uc010ypz.1_Silent_p.L98L|SLC1A4_uc010fcv.2_Silent_p.L396L|SLC1A4_uc002sdh.2_Silent_p.L176L	p.L396L	NM_003038	NP_003029	P43007	SATT_HUMAN			6	1510	+			396					B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.1188C>G	CCDS1879.1																																																																																				0.498	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2		NM_003038		11	96	0	0	0	0.013537	0	11	96		
AAK1	22848	broad.mit.edu	37	2	69759277	69759277	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:69759277C>T	ENST00000409085.4	-	6	928	c.552G>A	c.(550-552)ttG>ttA	p.L184L	AAK1_ENST00000406297.3_Silent_p.L184L|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Silent_p.L184L	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTCGGTCATGCAAGAGGATGT	0.413																																						uc002sfp.2		NaN																	0					0						c.(550-552)TTG>TTA		AP2 associated kinase 1							108.0	103.0	104.0					2																	69759277		1954	4151	6105	SO:0001819	synonymous_variant	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69759277C>T	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.552G>A	2.37:g.69759277C>T						AAK1_uc010fdk.2_Silent_p.L184L|AAK1_uc010yqm.1_Silent_p.L184L	p.L184L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			6	1057	-			184			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	c.552G>A	CCDS1893.2																																																																																				0.413	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4		NM_014911		10	25	0	0	0	0.006214	0	10	25		
EMX1	2016	broad.mit.edu	37	2	73160942	73160942	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:73160942G>A	ENST00000258106.6	+	3	1110	c.732G>A	c.(730-732)agG>agA	p.R244R	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	211					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						AGAACCGGAGGACAAAGTACA	0.607																																						uc002sin.1		NaN																	0					0						c.(730-732)AGG>AGA		empty spiracles homolog 1							61.0	69.0	66.0					2																	73160942		2062	4211	6273	SO:0001819	synonymous_variant	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73160942G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.732G>A	2.37:g.73160942G>A						EMX1_uc002sim.1_Missense_Mutation_p.D197N	p.R244R	NM_004097	NP_004088	Q04741	EMX1_HUMAN			3	1110	+			211			Homeobox.		Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	37	c.732G>A	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395636	0.42512	.	.	ENSG00000135638	ENST00000394111	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.76463	0.3991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79754	-0.1670	5	0.87932	D	0	-29.4034	16.7711	0.85537	0.0:0.0:1.0:0.0	.	.	.	.	N	197	.	ENSP00000377670:D197N	D	+	1	0	EMX1	73014450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.808000	0.86044	2.635000	0.89317	0.484000	0.47621	GAC		0.607	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3				28	10	0	0	0	0.030593	0	28	10		
KDM3A	55818	broad.mit.edu	37	2	86678259	86678259	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:86678259G>A	ENST00000409556.1	+	5	741	c.376G>A	c.(376-378)Gga>Aga	p.G126R	KDM3A_ENST00000409064.1_Missense_Mutation_p.G126R|KDM3A_ENST00000312912.5_Missense_Mutation_p.G126R|KDM3A_ENST00000542128.1_Missense_Mutation_p.G74R			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	126					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AGCTGGTTTGGGATCCATAAC	0.368																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(376-378)GGA>AGA		jumonji domain containing 1A							106.0	100.0	102.0					2																	86678259		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86678259G>A	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.376G>A	2.37:g.86678259G>A	ENSP00000386660:p.Gly126Arg					KDM3A_uc010ytj.1_Missense_Mutation_p.G126R|KDM3A_uc010ytk.1_Missense_Mutation_p.G74R	p.G126R	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			4	703	+			126					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.376G>A	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050552	0.93740	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000427678;ENST00000542128	T;T;T;T	0.60672	0.17;0.17;0.17;0.2	6.06	6.06	0.98353	.	0.160994	0.44688	D	0.000429	T	0.72763	0.3501	M	0.71581	2.175	0.45995	D	0.998802	D;D	0.63046	0.992;0.986	P;P	0.60068	0.868;0.741	T	0.71324	-0.4627	9	.	.	.	.	17.3401	0.87293	0.0:0.0:1.0:0.0	.	74;126	F5H070;Q9Y4C1	.;KDM3A_HUMAN	R	126;126;126;126;126;74	ENSP00000386660:G126R;ENSP00000323659:G126R;ENSP00000386516:G126R;ENSP00000438324:G74R	.	G	+	1	0	KDM3A	86531770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.690000	0.68241	2.882000	0.98803	0.655000	0.94253	GGA		0.368	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2		NM_018433		31	7	0	0	0	0.023175	0	31	7		
TGFBRAP1	9392	broad.mit.edu	37	2	105900801	105900801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:105900801G>A	ENST00000393359.2	-	5	1519	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.Q365*			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	365					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCCAGGAACTGAAGTTGTGCA	0.468																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1093-1095)CAG>TAG		transforming growth factor, beta receptor							121.0	115.0	117.0					2																	105900801		2203	4300	6503	SO:0001587	stop_gained	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105900801G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1093C>T	2.37:g.105900801G>A	ENSP00000377027:p.Gln365*					TGFBRAP1_uc010fjc.2_Nonsense_Mutation_p.Q135*|TGFBRAP1_uc002tcr.3_Nonsense_Mutation_p.Q365*	p.Q365*	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			5	1177	-			365					A8K5R7|D3DVJ8|O60466	Nonsense_Mutation	SNP	ENST00000393359.2	37	c.1093C>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	43	9.941816	0.99300	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-33.1756	19.8471	0.96713	0.0:0.0:1.0:0.0	.	.	.	.	X	365	.	ENSP00000258449:Q365X	Q	-	1	0	TGFBRAP1	105267233	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.837000	0.99465	2.688000	0.91661	0.655000	0.94253	CAG		0.468	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		NM_004257		23	66	0	0	0	0.027356	0	23	66		
RGPD4	285190	broad.mit.edu	37	2	108487551	108487551	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:108487551G>A	ENST00000408999.3	+	20	3168	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1031K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1031					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTATAAGACTGAGGACAGCGA	0.393																																						uc010ywk.1		NaN																	0				skin(2)	2						c.(3091-3093)GAG>AAG		RANBP2-like and GRIP domain containing 4							1.0	2.0	1.0					2																	108487551		269	770	1039	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487551G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3091G>A	2.37:g.108487551G>A	ENSP00000386810:p.Glu1031Lys					RGPD4_uc002tdu.2_Missense_Mutation_p.E218K|RGPD4_uc010ywl.1_RNA	p.E1031K	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	3173	+			1031					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3091G>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.00	1.511498	0.27036	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.51325	0.71;0.71	2.33	2.33	0.28932	.	.	.	.	.	T	0.62085	0.2399	M	0.78049	2.395	0.35467	D	0.797001	D	0.62365	0.991	P	0.58331	0.837	T	0.73668	-0.3910	9	0.56958	D	0.05	-29.9531	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1031	Q7Z3J3	RGPD4_HUMAN	K	1031;1031;789	ENSP00000347081:E1031K;ENSP00000386810:E1031K	ENSP00000347081:E1031K	E	+	1	0	RGPD4	107853983	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	9.533000	0.98059	1.303000	0.44873	0.162000	0.16502	GAG		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2		XM_496581		60	148	0	0	0	0.01441	0	60	148		
KIF5C	3800	broad.mit.edu	37	2	149861968	149861968	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:149861968G>A	ENST00000435030.1	+	22	2803	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	KIF5C_ENST00000397413.1_Missense_Mutation_p.R580Q|KIF5C_ENST00000414838.2_Missense_Mutation_p.R717Q|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	812					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGACCACCCGAGTTAAAAAA	0.403																																						uc010zbu.1		NaN																	0				skin(1)	1						c.(2434-2436)CGA>CAA		kinesin family member 5C							56.0	55.0	56.0					2																	149861968		1835	4084	5919	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149861968G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2435G>A	2.37:g.149861968G>A	ENSP00000393379:p.Arg812Gln					KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.R94Q	p.R812Q	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	22	2803	+			812					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.2435G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.221070	0.95139	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.78595	-1.19;-1.19;-1.19	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	D	0.85353	0.5677	.	.	.	0.45690	D	0.998601	P;D	0.65815	0.936;0.995	P;P	0.56042	0.484;0.79	D	0.84465	0.0596	8	.	.	.	.	19.8525	0.96745	0.0:0.0:1.0:0.0	.	812;120	O60282;Q59GB8	KIF5C_HUMAN;.	Q	812;717;715;580	ENSP00000393379:R812Q;ENSP00000410115:R717Q;ENSP00000380560:R580Q	.	R	+	2	0	KIF5C	149570214	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.681000	0.91329	0.655000	0.94253	CGA		0.403	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3		NM_004522		3	16	0	0	0	0.004672	0	3	16		
TTN	7273	broad.mit.edu	37	2	179438341	179438341	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:179438341A>G	ENST00000591111.1	-	276	67819	c.67595T>C	c.(67594-67596)gTa>gCa	p.V22532A	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15108A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21605A|TTN_ENST00000359218.5_Missense_Mutation_p.V15233A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V24173A|TTN_ENST00000342175.6_Missense_Mutation_p.V15300A			Q8WZ42	TITIN_HUMAN	titin	22532	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGAGGCTACATTTGTCCA	0.408																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(64813-64815)GTA>GCA		titin isoform N2-A							287.0	285.0	286.0					2																	179438341		1938	4135	6073	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438341A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67595T>C	2.37:g.179438341A>G	ENSP00000465570:p.Val22532Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15300A|TTN_uc010zfi.1_Missense_Mutation_p.V15233A|TTN_uc010zfj.1_Missense_Mutation_p.V15108A	p.V21605A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65038	-			22532					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64814T>C		.	.	.	.	.	.	.	.	.	.	A	13.85	2.360245	0.41801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.08	6.08	0.98989	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73953	0.3653	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.77178	-0.2683	9	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	15108;15233;15300;22532	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	21605;15108;15300;15233;15106	ENSP00000343764:V21605A;ENSP00000434586:V15108A;ENSP00000340554:V15300A;ENSP00000352154:V15233A	ENSP00000340554:V15300A	V	-	2	0	TTN	179146587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GTA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		137	51	0	0	0	0.01441	0	137	51		
TTN	7273	broad.mit.edu	37	2	179501130	179501130	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:179501130A>G	ENST00000591111.1	-	175	36625	c.36401T>C	c.(36400-36402)gTa>gCa	p.V12134A	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4710A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11207A|TTN_ENST00000359218.5_Missense_Mutation_p.V4835A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13775A|TTN_ENST00000342175.6_Missense_Mutation_p.V4902A			Q8WZ42	TITIN_HUMAN	titin	12134					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTACCTTCTACAACAAGTTT	0.343																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(33619-33621)GTA>GCA		titin isoform N2-A							30.0	30.0	30.0					2																	179501130		1810	4077	5887	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501130A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36401T>C	2.37:g.179501130A>G	ENSP00000465570:p.Val12134Ala					TTN_uc010zfh.1_Missense_Mutation_p.V4902A|TTN_uc010zfi.1_Missense_Mutation_p.V4835A|TTN_uc010zfj.1_Missense_Mutation_p.V4710A|TTN_uc010fre.1_Missense_Mutation_p.V1068A	p.V11207A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		174	33844	-			12134					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33620T>C		.	.	.	.	.	.	.	.	.	.	A	15.37	2.812578	0.50527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.76	5.76	0.90799	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91868	0.7426	H	0.95884	3.735	0.58432	D	0.999996	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	D	0.94316	0.7549	9	0.87932	D	0	.	16.0718	0.80941	1.0:0.0:0.0:0.0	.	4710;4835;4902;12134	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	11207;4710;4902;4835;4710	ENSP00000343764:V11207A;ENSP00000434586:V4710A;ENSP00000340554:V4902A;ENSP00000352154:V4835A	ENSP00000340554:V4902A	V	-	2	0	TTN	179209375	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.281000	0.95811	2.195000	0.70347	0.528000	0.53228	GTA		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		7	3	0	0	0	0.00308	0	7	3		
TTN	7273	broad.mit.edu	37	2	179596192	179596192	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:179596192G>A	ENST00000591111.1	-	57	16574	c.16350C>T	c.(16348-16350)agC>agT	p.S5450S	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S4523S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.S5767S|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12269	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCATCGCTGTCTTTTA	0.483																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13567-13569)AGC>AGT		titin isoform N2-A							88.0	83.0	85.0					2																	179596192		1925	4141	6066	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596192G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16350C>T	2.37:g.179596192G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S1184S	p.S4523S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	13793	-			5450					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.13569C>T																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		3	36	0	0	0	0.004672	0	3	36		
CDK15	65061	broad.mit.edu	37	2	202698639	202698639	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:202698639G>C	ENST00000374598.4	+	7	675	c.675G>C	c.(673-675)ctG>ctC	p.L225L	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Silent_p.L174L|CDK15_ENST00000450471.2_Silent_p.L225L|CDK15_ENST00000410091.3_Silent_p.L174L|CDK15_ENST00000434439.1_Silent_p.L225L			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACAGGGACCTGAAACCTCAGA	0.493																																						uc002uyt.2		NaN																	0		p.E225D(1)		breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(673-675)CTG>CTC		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						165.0	143.0	150.0					2																	202698639		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202698639G>C	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.675G>C	2.37:g.202698639G>C						CDK15_uc010ftm.2_Silent_p.L90L|CDK15_uc002uys.2_Silent_p.L174L|CDK15_uc010ftn.1_Silent_p.L174L|CDK15_uc010fto.1_Silent_p.L204L	p.L225L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			7	724	+			225			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.675G>C																																																																																					0.493	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2				27	55	0	0	0	0.010818	0	27	55		
CARF	79800	broad.mit.edu	37	2	203831743	203831743	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:203831743G>A	ENST00000402905.3	+	9	1196	c.875G>A	c.(874-876)aGa>aAa	p.R292K	CARF_ENST00000428585.1_Missense_Mutation_p.R216K|CARF_ENST00000320443.8_Missense_Mutation_p.R292K|CARF_ENST00000414439.1_Missense_Mutation_p.R190K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.R216K|CARF_ENST00000545253.1_Missense_Mutation_p.R204K|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000438828.2_Missense_Mutation_p.R292K	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	292					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGCCAAGAAGAAAAGGTTTC	0.408																																						uc002uzo.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(874-876)AGA>AAA		amyotrophic lateral sclerosis 2 (juvenile)							155.0	155.0	155.0					2																	203831743		1852	4095	5947	SO:0001583	missense	79800							g.chr2:203831743G>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.875G>A	2.37:g.203831743G>A	ENSP00000384006:p.Arg292Lys					ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.R216K|ALS2CR8_uc010zib.1_Missense_Mutation_p.R216K|ALS2CR8_uc010zic.1_Missense_Mutation_p.R204K|ALS2CR8_uc002uzp.2_Missense_Mutation_p.R292K	p.R292K	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			9	1155	+			292					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.875G>A	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613961	0.87359	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	L	0.36672	1.1	0.51233	D	0.999916	P;P;P	0.42908	0.793;0.793;0.793	B;B;B	0.39339	0.297;0.297;0.297	T	0.54180	-0.8332	9	0.51188	T	0.08	-16.5794	19.3616	0.94442	0.0:0.0:1.0:0.0	.	204;216;292	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	K	292;190;216;204;216;292;292	.	ENSP00000316224:R292K	R	+	2	0	ALS2CR8	203539988	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.586000	0.82596	2.820000	0.97059	0.650000	0.86243	AGA		0.408	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5		NM_001104586		27	59	0	0	0	0.009535	0	27	59		
SPHKAP	80309	broad.mit.edu	37	2	228886493	228886493	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:228886493C>T	ENST00000392056.3	-	6	677	c.631G>A	c.(631-633)Gag>Aag	p.E211K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E211K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	211						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGTCTTCCTCGATTGAAGAT	0.468																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(631-633)GAG>AAG		sphingosine kinase type 1-interacting protein							129.0	123.0	125.0					2																	228886493		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228886493C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.631G>A	2.37:g.228886493C>T	ENSP00000375909:p.Glu211Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.E211K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E211K	p.E211K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	678	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	211					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.631G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483940	0.96307	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.28895	1.59;1.61	5.79	5.79	0.91817	.	0.103207	0.64402	D	0.000003	T	0.57975	0.2090	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.58803	-0.7572	10	0.87932	D	0	.	19.0195	0.92908	0.0:1.0:0.0:0.0	.	211;211	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	211	ENSP00000375909:E211K;ENSP00000339886:E211K	ENSP00000339886:E211K	E	-	1	0	SPHKAP	228594737	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.194000	0.77789	2.746000	0.94184	0.655000	0.94253	GAG		0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		26	33	0	0	0	0.027356	0	26	33		
FARP2	9855	broad.mit.edu	37	2	242373632	242373632	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:242373632C>T	ENST00000264042.3	+	10	1097	c.927C>T	c.(925-927)ttC>ttT	p.F309F	FARP2_ENST00000545004.1_Silent_p.F309F|FARP2_ENST00000373287.4_Silent_p.F309F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	309	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GTAAGAACTTCTGGAAGATTT	0.398																																						uc002wbi.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(925-927)TTC>TTT		FERM, RhoGEF and pleckstrin domain protein 2							163.0	167.0	166.0					2																	242373632		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373632C>T	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.927C>T	2.37:g.242373632C>T						FARP2_uc010zoq.1_Silent_p.F309F|FARP2_uc010zor.1_Silent_p.F309F	p.F309F	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1044	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	309			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.927C>T	CCDS33424.1																																																																																				0.398	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1				27	52	0	0	0	0.037714	0	27	52		
FARP2	9855	broad.mit.edu	37	2	242373728	242373728	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:242373728C>G	ENST00000264042.3	+	10	1193	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	FARP2_ENST00000545004.1_Missense_Mutation_p.F341L|FARP2_ENST00000373287.4_Missense_Mutation_p.F341L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	341					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GCTCCTCCTTCAGATACAGGT	0.458																																						uc002wbi.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1021-1023)TTC>TTG		FERM, RhoGEF and pleckstrin domain protein 2							63.0	66.0	65.0					2																	242373728		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373728C>G	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1023C>G	2.37:g.242373728C>G	ENSP00000264042:p.Phe341Leu					FARP2_uc010zoq.1_Missense_Mutation_p.F341L|FARP2_uc010zor.1_Missense_Mutation_p.F341L	p.F341L	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1140	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	341					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1023C>G	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870989	0.91587	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.04	4.15	0.48705	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.978;0.997	D	0.98537	1.0630	10	0.87932	D	0	.	12.8345	0.57765	0.0:0.9207:0.0:0.0793	.	341;341;341	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	L	341;341;341;28	ENSP00000264042:F341L;ENSP00000443876:F341L;ENSP00000362384:F341L;ENSP00000412772:F28L	ENSP00000264042:F341L	F	+	3	2	FARP2	242022401	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.499000	0.45372	2.333000	0.79357	0.557000	0.71058	TTC		0.458	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1				11	23	0	0	0	0.008291	0	11	23		
SEL1L2	80343	broad.mit.edu	37	20	13847482	13847482	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:13847482A>G	ENST00000284951.5	-	15	1344	c.1270T>C	c.(1270-1272)Tgg>Cgg	p.W424R	SEL1L2_ENST00000378072.5_Missense_Mutation_p.W424R|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	424						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TAATCCTTCCATATTCCAGAG	0.363																																						uc010gcf.2		NaN																	0				ovary(2)	2						c.(1270-1272)TGG>CGG		sel-1 suppressor of lin-12-like 2 precursor							66.0	62.0	63.0					20																	13847482		1805	4074	5879	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13847482A>G	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1270T>C	20.37:g.13847482A>G	ENSP00000284951:p.Trp424Arg					SEL1L2_uc002woq.3_Missense_Mutation_p.W285R|SEL1L2_uc010zrl.1_Missense_Mutation_p.W424R|SEL1L2_uc002wor.2_RNA	p.W424R	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			15	1352	-			424			Extracellular (Potential).|Sel1-like 8.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1270T>C		.	.	.	.	.	.	.	.	.	.	A	4.645	0.119847	0.08881	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.49139	0.79;0.79	6.03	4.94	0.65067	Tetratricopeptide-like helical (1);	0.209766	0.34879	N	0.003607	T	0.24122	0.0584	N	0.00104	-2.125	0.36919	D	0.891284	B;D	0.89917	0.024;1.0	B;D	0.91635	0.079;0.999	T	0.44847	-0.9301	10	0.20519	T	0.43	-0.8399	5.8783	0.18842	0.7765:0.0:0.0776:0.146	.	424;424	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	R	424	ENSP00000367312:W424R;ENSP00000284951:W424R	ENSP00000284951:W424R	W	-	1	0	SEL1L2	13795482	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	4.044000	0.57361	1.104000	0.41587	-0.388000	0.06559	TGG		0.363	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3		NM_025229		6	61	0	0	0	0.021553	0	6	61		
BPIFB4	149954	broad.mit.edu	37	20	31671341	31671341	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:31671341G>A	ENST00000375483.3	+	3	338	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	113						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GAGTCCGAGGGAAGCATCAGG	0.552																																						uc010zue.1		NaN																	0					0						c.(337-339)GGA>GAA		antimicrobial peptide RY2G5 precursor							78.0	71.0	73.0					20																	31671341		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671341G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.338G>A	20.37:g.31671341G>A	ENSP00000364632:p.Gly113Glu						p.G113E	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	353	+			113					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.338G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	0.223	-1.027414	0.02045	.	.	ENSG00000186191	ENST00000375483	T	0.02015	4.5	3.28	2.3	0.28687	.	0.594953	0.14296	N	0.328619	T	0.01940	0.0061	N	0.19112	0.55	0.20703	N	0.999861	B	0.10296	0.003	B	0.08055	0.003	T	0.45411	-0.9263	10	0.45353	T	0.12	-4.0564	9.5045	0.39037	0.1211:0.0:0.8789:0.0	.	113	P59827	BPIB4_HUMAN	E	113	ENSP00000364632:G113E	ENSP00000364632:G113E	G	+	2	0	BPIFB4	31135002	1.000000	0.71417	0.286000	0.24833	0.002000	0.02628	2.912000	0.48782	0.219000	0.20840	-1.598000	0.00824	GGA		0.552	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5		NM_182519		4	73	0	0	0	0.009096	0	4	73		
FAM83C	128876	broad.mit.edu	37	20	33879831	33879831	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:33879831C>T	ENST00000374408.3	-	1	373	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	93										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCTGAGCCTCGCTGAGCTCA	0.662																																						uc010zux.1		NaN																	0				ovary(2)	2						c.(277-279)GAG>AAG		hypothetical protein LOC128876							38.0	42.0	41.0					20																	33879831		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33879831C>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.277G>A	20.37:g.33879831C>T	ENSP00000363529:p.Glu93Lys					FAM83C_uc002xcb.1_5'UTR	p.E93K	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	395	-			93					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.277G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685049	0.29872	.	.	ENSG00000125998	ENST00000374408	T	0.12039	2.72	4.85	3.9	0.45041	.	0.642924	0.15638	N	0.252032	T	0.10766	0.0263	L	0.43923	1.385	0.09310	N	1	P	0.39847	0.691	B	0.35073	0.195	T	0.14117	-1.0484	10	0.35671	T	0.21	.	8.1018	0.30861	0.0:0.7784:0.0:0.2216	.	93	Q9BQN1	FA83C_HUMAN	K	93	ENSP00000363529:E93K	ENSP00000363529:E93K	E	-	1	0	FAM83C	33343245	0.080000	0.21391	0.859000	0.33776	0.306000	0.27790	1.275000	0.33144	2.693000	0.91896	0.462000	0.41574	GAG		0.662	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3				11	41	0	0	0	0.010729	0	11	41		
MROH8	140699	broad.mit.edu	37	20	35766314	35766314	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:35766314G>A	ENST00000400441.3	-	13	1547	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V	MROH8_ENST00000441008.2_Silent_p.V502V|MROH8_ENST00000217333.8_Silent_p.V345V			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	401																	TTTGTTGGCGGACTCTAGGCT	0.408																																						uc010zvu.1		NaN																	0					0						c.(1576-1578)GTC>GTT		hypothetical protein LOC140699 isoform 1							117.0	108.0	111.0					20																	35766314		1862	4113	5975	SO:0001819	synonymous_variant	140699							g.chr20:35766314G>A	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1548C>T	20.37:g.35766314G>A						C20orf132_uc002xgk.2_Silent_p.V148V|C20orf132_uc002xgm.2_Silent_p.V526V|C20orf132_uc002xgn.2_Silent_p.V491V	p.V526V	NM_152503	NP_689716	Q9H579	CT132_HUMAN			15	1669	-		Myeloproliferative disorder(115;0.00878)	401					Q5JYQ6	Silent	SNP	ENST00000400441.3	37	c.1578C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.275|7.275	0.607916|0.607916	0.14002|0.14002	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000417458;ENST00000421643|ENST00000343811;ENST00000400440	.|.	.|.	.|.	5.49|5.49	-1.45|-1.45	0.08828|0.08828	.|.	.|.	.|.	.|.	.|.	T|T	0.49864|0.49864	0.1582|0.1582	.|.	.|.	.|.	0.51012|0.51012	D|D	0.999909|0.999909	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39881|0.39881	-0.9592|-0.9592	4|4	.|.	.|.	.|.	-7.4588|-7.4588	5.2129|5.2129	0.15327|0.15327	0.3213:0.2801:0.3986:0.0|0.3213:0.2801:0.3986:0.0	.|.	.|.	.|.	.|.	S|F	144;518|543;547	.|.	.|.	P|S	-|-	1|2	0|0	C20orf132|C20orf132	35199728|35199728	0.948000|0.948000	0.32251|0.32251	0.421000|0.421000	0.26609|0.26609	0.959000|0.959000	0.62525|0.62525	0.530000|0.530000	0.23036|0.23036	-0.203000|-0.203000	0.10251|0.10251	0.563000|0.563000	0.77884|0.77884	CCG|TCC		0.408	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152503		5	16	0	0	0	0.014758	0	5	16		
ZNF335	63925	broad.mit.edu	37	20	44578441	44578441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:44578441G>A	ENST00000322927.2	-	24	3767	c.3667C>T	c.(3667-3669)Cag>Tag	p.Q1223*	ZNF335_ENST00000426788.1_Nonsense_Mutation_p.Q1068*	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1223	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TAGCTCACCTGGTTGTCGGAG	0.562																																						uc002xqw.2		NaN																	0				skin(3)|ovary(1)	4						c.(3667-3669)CAG>TAG		zinc finger protein 335							149.0	120.0	130.0					20																	44578441		2203	4300	6503	SO:0001587	stop_gained	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578441G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3667C>T	20.37:g.44578441G>A	ENSP00000325326:p.Gln1223*					ZNF335_uc002xqv.2_Nonsense_Mutation_p.Q335*|ZNF335_uc010zxk.1_Nonsense_Mutation_p.Q1068*	p.Q1223*	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			24	3790	-		Myeloproliferative disorder(115;0.0122)	1223			Gln-rich.		B4DLG7|Q548D0|Q9H684	Nonsense_Mutation	SNP	ENST00000322927.2	37	c.3667C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	40	8.393184	0.98791	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	.	.	.	4.78	4.78	0.61160	.	0.135974	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-26.8014	17.3275	0.87253	0.0:0.0:1.0:0.0	.	.	.	.	X	1223;1000;1068	.	ENSP00000243961:Q1000X	Q	-	1	0	ZNF335	44011848	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.899000	0.92544	2.654000	0.90174	0.561000	0.74099	CAG		0.562	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		NM_022095		7	65	0	0	0	0.00308	0	7	65		
ZMYND8	23613	broad.mit.edu	37	20	45850114	45850114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr20:45850114G>A	ENST00000311275.7	-	20	3461	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.Q1018*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.Q1019*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.Q992*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.Q1097*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.Q1044*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.Q938*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.Q1070*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.Q1044*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.Q1090*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.Q1024*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.Q1070*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.Q961*	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1070					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTCCTGCTGAGGAGCAGTA	0.547																																						uc002xta.1		NaN																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(3208-3210)CAG>TAG		zinc finger, MYND-type containing 8 isoform b							66.0	56.0	59.0					20																	45850114		2203	4300	6503	SO:0001587	stop_gained	23613						protein binding|zinc ion binding	g.chr20:45850114G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3208C>T	20.37:g.45850114G>A	ENSP00000312237:p.Gln1070*					ZMYND8_uc010ghq.1_Nonsense_Mutation_p.Q701*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.Q972*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.Q952*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.Q943*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.Q998*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.Q776*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.Q776*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.Q999*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.Q961*|ZMYND8_uc010zxy.1_Nonsense_Mutation_p.Q1097*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.Q1044*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.Q1070*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.Q938*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.Q1044*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.Q1019*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.Q1024*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.Q1070*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.Q1090*|ZMYND8_uc002xsr.1_Nonsense_Mutation_p.Q169*	p.Q1070*	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		20	3462	-			1070					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Nonsense_Mutation	SNP	ENST00000311275.7	37	c.3208C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.889693|8.889693	0.98992|0.98992	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	.|.	.|.	.|.	5.66|5.66	4.72|4.72	0.59763|0.59763	.|.	0.054916|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65260	.|0.2674	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71080	.|-0.4696	.|3	0.72032|.	D|.	0.01|.	-2.1701|-2.1701	14.5567|14.5567	0.68106|0.68106	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|.	.|.	.|.	X|L	1019;1070;938;1025;1091;1044;1070;1097;1070;961;1044;992;1018|951	.|.	ENSP00000262975:Q1025X|.	Q|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45283521|45283521	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.875000|0.875000	0.50365|0.50365	8.175000|8.175000	0.89684|0.89684	1.390000|1.390000	0.46547|0.46547	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.547	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047		7	25	0	0	0	0.02938	0	7	25		
CCT8	10694	broad.mit.edu	37	21	30435690	30435690	+	Silent	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:30435690A>G	ENST00000286788.4	-	8	1130	c.924T>C	c.(922-924)taT>taC	p.Y308Y	CCT8_ENST00000542732.1_Silent_p.Y289Y|CCT8_ENST00000540844.1_Silent_p.Y235Y|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	308					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACATGATATTATATTTATTTG	0.348																																						uc002ynb.2		NaN																	0					0						c.(922-924)TAT>TAC		chaperonin containing TCP1, subunit 8 (theta)							76.0	78.0	78.0					21																	30435690		2203	4300	6503	SO:0001819	synonymous_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30435690A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.924T>C	21.37:g.30435690A>G						CCT8_uc002ymz.2_5'Flank|CCT8_uc011acp.1_Silent_p.Y289Y|CCT8_uc002yna.2_Silent_p.Y257Y|CCT8_uc002ync.2_Silent_p.Y307Y|CCT8_uc010glm.2_Silent_p.Y249Y|CCT8_uc011acq.1_Silent_p.Y235Y	p.Y308Y	NM_006585	NP_006576	P50990	TCPQ_HUMAN			8	1023	-			308					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.924T>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	6.885	0.532766	0.13127	.	.	ENSG00000156261	ENST00000431234	.	.	.	5.36	0.319	0.15873	.	.	.	.	.	T	0.57902	0.2085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51293	-0.8724	4	.	.	.	-8.4203	10.3007	0.43650	0.316:0.0:0.684:0.0	.	.	.	.	T	254	.	.	I	-	2	0	CCT8	29357561	1.000000	0.71417	0.993000	0.49108	0.902000	0.53008	3.839000	0.55835	-0.125000	0.11703	-0.605000	0.04089	ATA		0.348	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1				25	32	0	0	0	0.027356	0	25	32		
TMPRSS2	7113	broad.mit.edu	37	21	42848536	42848536	+	Missense_Mutation	SNP	G	G	T	rs547544037	byFrequency	TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:42848536G>T	ENST00000332149.5	-	8	829	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.S269Y|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.S232Y	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	232	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGCTTTTGAAGAACAGGCATC	0.428			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2		NaN		Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	0				prostate(2523)|central_nervous_system(1)	2524						c.(694-696)TCT>TAT		transmembrane protease, serine 2 isoform 2							104.0	95.0	98.0					21																	42848536		2203	4298	6501	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42848536G>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.695C>A	21.37:g.42848536G>T	ENSP00000330330:p.Ser232Tyr					TMPRSS2_uc010gor.2_Missense_Mutation_p.S269Y|TMPRSS2_uc010gos.1_Missense_Mutation_p.S232Y	p.S232Y	NM_005656	NP_005647	O15393	TMPS2_HUMAN			8	829	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	232			Extracellular (Potential).|SRCR.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.695C>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	G	5.254	0.232234	0.09969	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	4.79	3.89	0.44902	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.518379	0.19020	N	0.124852	T	0.36963	0.0986	L	0.52364	1.645	0.32426	N	0.548729	B;B	0.28178	0.168;0.202	B;B	0.29942	0.066;0.109	T	0.36212	-0.9757	10	0.02654	T	1	.	11.5819	0.50896	0.0938:0.0:0.9062:0.0	.	269;232	F8WES1;O15393	.;TMPS2_HUMAN	Y	232;269;232;232;192	ENSP00000330330:S232Y;ENSP00000381588:S269Y;ENSP00000391216:S232Y;ENSP00000389006:S232Y;ENSP00000397846:S192Y	ENSP00000330330:S232Y	S	-	2	0	TMPRSS2	41770406	0.961000	0.32948	0.688000	0.30117	0.010000	0.07245	2.909000	0.48758	2.364000	0.80123	0.643000	0.83706	TCT		0.428	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1				10	57	1	0	3.07112e-06	0.010729	3.19335e-06	10	57		
PDXK	8566	broad.mit.edu	37	21	45170387	45170387	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:45170387G>A	ENST00000291565.4	+	7	654	c.471G>A	c.(469-471)ctG>ctA	p.L157L	PDXK_ENST00000467908.1_Silent_p.L117L|PDXK_ENST00000468090.1_Silent_p.L129L	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	157					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CCAGGTTACTGAGTGGCCGGA	0.652																																						uc002zdm.3		NaN																	0					0						c.(469-471)CTG>CTA		pyridoxal kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						48.0	40.0	43.0					21																	45170387		2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45170387G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.471G>A	21.37:g.45170387G>A						PDXK_uc010gpj.2_Silent_p.L157L|PDXK_uc002zdn.3_Silent_p.L129L|PDXK_uc002zdq.3_Silent_p.L84L	p.L157L	NM_003681	NP_003672	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	7	669	+			157					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.471G>A	CCDS13699.1																																																																																				0.652	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1		NM_003681		4	21	0	0	0	0.021553	0	4	21		
PDXK	8566	broad.mit.edu	37	21	45170412	45170412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr21:45170412G>T	ENST00000291565.4	+	7	679	c.496G>T	c.(496-498)Gag>Tag	p.E166*	PDXK_ENST00000467908.1_Nonsense_Mutation_p.E126*|PDXK_ENST00000468090.1_Nonsense_Mutation_p.E138*	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	166					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CCACAGCCAGGAGGAAGCCTT	0.652																																						uc002zdm.3		NaN																	0					0						c.(496-498)GAG>TAG		pyridoxal kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						52.0	46.0	48.0					21																	45170412		2203	4300	6503	SO:0001587	stop_gained	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45170412G>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.496G>T	21.37:g.45170412G>T	ENSP00000291565:p.Glu166*					PDXK_uc010gpj.2_Nonsense_Mutation_p.E166*|PDXK_uc002zdn.3_Nonsense_Mutation_p.E138*|PDXK_uc002zdq.3_Nonsense_Mutation_p.E93*	p.E166*	NM_003681	NP_003672	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	7	694	+			166					Q7Z2Y0|Q9BS02	Nonsense_Mutation	SNP	ENST00000291565.4	37	c.496G>T	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	G	35	5.542449	0.96474	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000463355;ENST00000467908	.	.	.	4.71	4.71	0.59529	.	0.230075	0.44483	D	0.000452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-29.5972	7.9394	0.29950	0.1491:0.0:0.8509:0.0	.	.	.	.	X	138;166;166;126	.	ENSP00000291565:E166X	E	+	1	0	PDXK	43994840	1.000000	0.71417	0.998000	0.56505	0.551000	0.35334	2.203000	0.42752	2.337000	0.79520	0.637000	0.83480	GAG		0.652	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1		NM_003681		6	27	1	0	5.18039e-06	0.00308	5.35991e-06	6	27		
CCT8L2	150160	broad.mit.edu	37	22	17072820	17072820	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:17072820C>T	ENST00000359963.3	-	1	880	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.A207A(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCCGGGCAGCGCGCACACCC	0.617																																						uc002zlp.1		NaN																	2	Substitution - coding silent(2)	p.A207V(1)	lung(2)	ovary(1)	1						c.(619-621)GCG>GCA		T-complex protein 1							63.0	63.0	63.0					22																	17072820		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072820C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.621G>A	22.37:g.17072820C>T							p.A207A	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	881	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	207					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.621G>A	CCDS13738.1																																																																																				0.617	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1				37	63	0	0	0	0.023175	0	37	63		
CECR2	27443	broad.mit.edu	37	22	17976471	17976471	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:17976471C>T	ENST00000400573.5	+	3	199	c.192C>T	c.(190-192)atC>atT	p.I64I	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Silent_p.I45I|CECR2_ENST00000342247.5_Silent_p.I44I|CECR2_ENST00000497534.1_3'UTR			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	86					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGGACATCATCAACTACCGCT	0.522																																						uc010gqw.1		NaN																	0				ovary(1)|skin(1)	2						c.(130-132)ATC>ATT		cat eye syndrome chromosome region, candidate 2							53.0	55.0	54.0					22																	17976471		1956	4147	6103	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17976471C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.192C>T	22.37:g.17976471C>T						CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	p.I44I	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	2	258	+		all_epithelial(15;0.139)	86					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400573.5	37	c.132C>T																																																																																					0.522	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5		NM_031413		4	22	0	0	0	0.009096	0	4	22		
PRODH	5625	broad.mit.edu	37	22	18918708	18918708	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:18918708G>A	ENST00000357068.6	-	2	542	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	PRODH_ENST00000420436.1_Intron|PRODH_ENST00000334029.2_5'UTR	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	93					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GAAACATACAGCAGCTGAAAG	0.547																																						uc010grl.2		NaN																	0				breast(1)	1						c.(277-279)CTG>TTG		proline dehydrogenase 1	L-Proline(DB00172)						40.0	35.0	37.0					22																	18918708		2203	4299	6502	SO:0001819	synonymous_variant	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18918708G>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.277C>T	22.37:g.18918708G>A						PRODH_uc002zoj.3_Intron|PRODH_uc002zol.3_5'UTR|PRODH_uc002zok.3_Silent_p.L93L	p.L93L	NM_016335	NP_057419	O43272	PROD_HUMAN			2	291	-			93					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	ENST00000357068.6	37	c.277C>T	CCDS13754.1																																																																																				0.547	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2		NM_016335		13	33	0	0	0	0.020292	0	13	33		
MTMR3	8897	broad.mit.edu	37	22	30403146	30403146	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:30403146G>C	ENST00000401950.2	+	10	1057	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	MTMR3_ENST00000333027.3_Missense_Mutation_p.E239Q|MTMR3_ENST00000323630.5_Missense_Mutation_p.E103Q|MTMR3_ENST00000406629.1_Missense_Mutation_p.E239Q|MTMR3_ENST00000351488.3_Missense_Mutation_p.E239Q|CTA-85E5.10_ENST00000429350.1_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	239	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGACAGCCAGAGGTTAGCTG	0.537																																						uc003agv.3		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(715-717)GAG>CAG		myotubularin-related protein 3 isoform c							81.0	77.0	79.0					22																	30403146		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30403146G>C	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.715G>C	22.37:g.30403146G>C	ENSP00000384651:p.Glu239Gln					MTMR3_uc003agu.3_Missense_Mutation_p.E239Q|MTMR3_uc003agw.3_Missense_Mutation_p.E239Q	p.E239Q	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		10	1043	+			239			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.715G>C	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	33	5.242908	0.95272	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.67	5.67	0.87782	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	L	0.50333	1.59	0.80722	D	1	D;B;D	0.89917	1.0;0.236;1.0	D;B;D	0.80764	0.994;0.345;0.994	D	0.95076	0.8209	10	0.72032	D	0.01	.	18.7562	0.91833	0.0:0.0:1.0:0.0	.	239;239;239	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	Q	239;239;103;239;239	ENSP00000384651:E239Q;ENSP00000331649:E239Q;ENSP00000318070:E103Q;ENSP00000307271:E239Q;ENSP00000384077:E239Q	ENSP00000318070:E103Q	E	+	1	0	MTMR3	28733146	1.000000	0.71417	0.929000	0.37066	0.984000	0.73092	9.363000	0.97131	2.686000	0.91538	0.655000	0.94253	GAG		0.537	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090		16	53	0	0	0	0.0333	0	16	53		
HMGXB4	10042	broad.mit.edu	37	22	35660675	35660675	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:35660675G>C	ENST00000216106.5	+	5	422	c.294G>C	c.(292-294)aaG>aaC	p.K98N	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	98					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAAGAAAAAGAAAAAGTCCA	0.438																																						uc003anl.2		NaN																	0				breast(1)|skin(1)	2						c.(292-294)AAG>AAC		high-mobility group protein 2-like 1							105.0	112.0	110.0					22																	35660675		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660675G>C	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.294G>C	22.37:g.35660675G>C	ENSP00000216106:p.Lys98Asn					HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.2_5'UTR	p.K98N	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN			5	468	+			98					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.294G>C	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480649	0.63849	.	.	ENSG00000100281	ENST00000216106	T	0.24151	1.87	5.89	4.87	0.63330	.	0.144291	0.64402	D	0.000006	T	0.27967	0.0689	L	0.27053	0.805	0.80722	D	1	D	0.59357	0.985	P	0.50314	0.637	T	0.02226	-1.1192	10	0.87932	D	0	-17.7883	15.3291	0.74193	0.0677:0.0:0.9323:0.0	.	98	Q9UGU5	HMGX4_HUMAN	N	98	ENSP00000216106:K98N	ENSP00000216106:K98N	K	+	3	2	HMGXB4	33990675	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.470000	0.66756	2.797000	0.96272	0.563000	0.77884	AAG		0.438	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2		NM_005487		24	53	0	0	0	0.016522	0	24	53		
PDGFB	5155	broad.mit.edu	37	22	39626222	39626222	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:39626222G>A	ENST00000331163.6	-	5	1255	c.468C>T	c.(466-468)atC>atT	p.I156I	PDGFB_ENST00000381551.4_Silent_p.I141I	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	156					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GCACAATCTCGATCTTTCTCA	0.582			T	COL1A1	DFSP																																	uc003axf.2		NaN		Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(1)	373						c.(466-468)ATC>ATT		platelet-derived growth factor beta isoform 1	Becaplermin(DB00102)						62.0	57.0	59.0					22																	39626222		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39626222G>A		CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.468C>T	22.37:g.39626222G>A						PDGFB_uc003axe.2_Silent_p.I141I	p.I156I	NM_002608	NP_002599	P01127	PDGFB_HUMAN			5	1457	-	Melanoma(58;0.04)		156					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.468C>T	CCDS13987.1																																																																																				0.582	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1		NM_002608		16	37	0	0	0	0.006122	0	16	37		
ACR	49	broad.mit.edu	37	22	51182532	51182532	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr22:51182532C>T	ENST00000216139.5	+	4	649	c.609C>T	c.(607-609)ctC>ctT	p.L203L	AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	203	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTGGATCTCATCGACCTGG	0.567																																						uc003bnh.3		NaN																	0					0						c.(607-609)CTC>CTT		acrosin precursor							164.0	148.0	153.0					22																	51182532		2203	4300	6503	SO:0001819	synonymous_variant	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51182532C>T	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.609C>T	22.37:g.51182532C>T							p.L203L	NM_001097	NP_001088	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	4	621	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	203			Peptidase S1.		Q6ICK2	Silent	SNP	ENST00000216139.5	37	c.609C>T	CCDS14101.1																																																																																				0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2		NM_001097		43	108	0	0	0	0.01441	0	43	108		
HDAC11	79885	broad.mit.edu	37	3	13544448	13544448	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:13544448G>A	ENST00000295757.3	+	8	800	c.617G>A	c.(616-618)cGc>cAc	p.R206H	HDAC11_ENST00000402271.1_Missense_Mutation_p.R127H|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.R178H|HDAC11_ENST00000522202.1_Missense_Mutation_p.R155H|HDAC11_ENST00000446613.2_Missense_Mutation_p.R14H|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404040.1_Missense_Mutation_p.R106H|HDAC11_ENST00000433119.1_Missense_Mutation_p.A164T	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	206	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GTCTACAACCGCCACATCTAC	0.577																																						uc003bxy.2		NaN																	0				ovary(2)	2						c.(616-618)CGC>CAC		histone deacetylase 11 isoform 1							198.0	184.0	189.0					3																	13544448		2203	4300	6503	SO:0001583	missense	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13544448G>A	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.617G>A	3.37:g.13544448G>A	ENSP00000295757:p.Arg206His					HDAC11_uc010heb.2_Missense_Mutation_p.A164T|HDAC11_uc011aux.1_Missense_Mutation_p.R14H|HDAC11_uc011auy.1_Missense_Mutation_p.R155H	p.R206H	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN			8	750	+			206			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.617G>A	CCDS2615.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.12|12.12	1.842813|1.842813	0.32606|0.32606	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000433119|ENST00000295757;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000405478;ENST00000522202;ENST00000437379	.|T;T;T;T;T;T;T	.|0.70164	.|-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.78|4.78	3.89|3.89	0.44902|0.44902	.|Histone deacetylase domain (2);	.|0.372425	.|0.24611	.|N	.|0.037048	T|T	0.58495|0.58495	0.2126|0.2126	L|L	0.56199|0.56199	1.76|1.76	0.39063|0.39063	D|D	0.96056|0.96056	P|P;P	0.36438|0.42039	0.553|0.769;0.769	B|B;B	0.28305|0.36534	0.088|0.148;0.227	T|T	0.68372|0.68372	-0.5426|-0.5426	8|10	0.87932|0.87932	D|D	0|0	2.9004|2.9004	11.1146|11.1146	0.48254|0.48254	0.0936:0.0:0.9064:0.0|0.0936:0.0:0.9064:0.0	.|.	164|155;206	Q658J9|B4DDK1;Q96DB2	.|.;HDA11_HUMAN	T|H	164|206;127;14;106;178;155;178	.|ENSP00000295757:R206H;ENSP00000384123:R127H;ENSP00000401487:R14H;ENSP00000385475:R106H;ENSP00000385252:R178H;ENSP00000429794:R155H;ENSP00000395188:R178H	ENSP00000412514:A164T|ENSP00000295757:R206H	A|R	+|+	1|2	0|0	HDAC11|HDAC11	13519448|13519448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	3.748000|3.748000	0.55142|0.55142	2.214000|2.214000	0.71695|0.71695	0.313000|0.313000	0.20887|0.20887	GCC|CGC		0.577	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5		NM_024827		25	210	0	0	0	0.027356	0	25	210		
ANKRD28	23243	broad.mit.edu	37	3	15720866	15720866	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:15720866C>T	ENST00000399451.2	-	23	2780	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E838K|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	805						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTAACATCTCAGCAGCACCT	0.378																																						uc003caj.1		NaN																	0				breast(1)	1						c.(2413-2415)GAG>AAG		ankyrin repeat domain 28							252.0	242.0	245.0					3																	15720866		1976	4145	6121	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15720866C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2413G>A	3.37:g.15720866C>T	ENSP00000382379:p.Glu805Lys					ANKRD28_uc003cai.1_Missense_Mutation_p.E651K|ANKRD28_uc011avz.1_Missense_Mutation_p.E651K|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_Intron	p.E805K	NM_015199	NP_056014	O15084	ANR28_HUMAN			23	2556	-			805			ANK 23.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2413G>A	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945245	0.92593	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.62232	0.04;0.04;0.04	6.06	5.19	0.71726	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	L	0.43646	1.37	0.80722	D	1	P	0.45634	0.863	P	0.48873	0.593	T	0.56938	-0.7896	10	0.06099	T	0.92	.	15.3261	0.74164	0.0:0.9334:0.0:0.0666	.	805	O15084	ANR28_HUMAN	K	805;838;805	ENSP00000382379:E805K;ENSP00000373287:E838K;ENSP00000397341:E805K	ENSP00000373287:E838K	E	-	1	0	ANKRD28	15695870	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	1.584000	0.49913	0.655000	0.94253	GAG		0.378	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1		NM_015199		43	143	0	0	0	0.01441	0	43	143		
NGLY1	55768	broad.mit.edu	37	3	25761126	25761126	+	Splice_Site	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:25761126T>C	ENST00000280700.5	-	12	1950	c.1790A>G	c.(1789-1791)gAt>gGt	p.D597G	NGLY1_ENST00000428257.1_Splice_Site_p.D579G|NGLY1_ENST00000417874.2_Splice_Site_p.D555G|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_Splice_Site_p.I538V	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	597	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						AAGACTGTTATCTGTTAGAGG	0.343																																						uc003cdl.2		NaN																	0				breast(1)	1						c.(1789-1791)GAT>GGT		N-glycanase 1 isoform 1							58.0	59.0	59.0					3																	25761126		2203	4300	6503	SO:0001630	splice_region_variant	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25761126T>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1790-1A>G	3.37:g.25761126T>C						NGLY1_uc010hfg.2_Missense_Mutation_p.D579G|NGLY1_uc003cdm.2_Missense_Mutation_p.I538V|NGLY1_uc011awo.1_Missense_Mutation_p.D555G|NGLY1_uc003cdk.2_RNA	p.D597G	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			12	1898	-			597			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1790A>G	CCDS33719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.40|13.40	2.227149|2.227149	0.39399|0.39399	.|.	.|.	ENSG00000151092|ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874|ENST00000396649	T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Peptide N glycanase, PAW domain (1);Galactose-binding domain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36908|0.36908	0.0984|0.0984	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|B	0.20164|0.02656	0.003;0.042;0.036|0.0	B;B;B|B	0.20955|0.04013	0.004;0.032;0.019|0.001	T|T	0.33189|0.33189	-0.9878|-0.9878	9|7	0.22706|0.02654	T|T	0.39|1	.|.	16.2461|16.2461	0.82446|0.82446	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	555;579;597|538	B4DJE9;Q96IV0-2;Q96IV0|Q96IV0-3	.;.;NGLY1_HUMAN|.	G|V	579;597;576;555|538	ENSP00000387430:D579G;ENSP00000280700:D597G;ENSP00000307980:D576G;ENSP00000389888:D555G|.	ENSP00000280700:D597G|ENSP00000379886:I538V	D|I	-|-	2|1	0|0	NGLY1|NGLY1	25736130|25736130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.786000|0.786000	0.44442|0.44442	6.739000|6.739000	0.74827|0.74827	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.343	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			Missense_Mutation	19	26	0	0	0	0.007413	0	19	26		
ZCWPW2	152098	broad.mit.edu	37	3	28520378	28520378	+	Missense_Mutation	SNP	C	C	G	rs372074895		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:28520378C>G	ENST00000383768.2	+	5	754	c.566C>G	c.(565-567)tCt>tGt	p.S189C	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.S189C			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	189							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TATGGATATTCTCATGAGCAA	0.294																																						uc003ceh.2		NaN																	0				ovary(2)	2						c.(565-567)TCT>TGT		zinc finger, CW type with PWWP domain 2							78.0	80.0	79.0					3																	28520378		2203	4298	6501	SO:0001583	missense	152098						zinc ion binding	g.chr3:28520378C>G	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.566C>G	3.37:g.28520378C>G	ENSP00000373278:p.Ser189Cys					ZCWPW2_uc003cei.2_Missense_Mutation_p.S189C|ZCWPW2_uc010hfo.2_5'UTR	p.S189C	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			5	734	+			189						Missense_Mutation	SNP	ENST00000383768.2	37	c.566C>G	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.576290|2.576290	0.45902|0.45902	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000419130|ENST00000383768;ENST00000421010	.|T;T	.|0.34859	.|1.34;1.34	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.64402	.|D	.|0.000015	T|T	0.49490|0.49490	0.1560|0.1560	L|L	0.36672|0.36672	1.1|1.1	0.24611|0.24611	N|N	0.993729|0.993729	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	T|T	0.41431|0.41431	-0.9509|-0.9509	5|10	.|0.87932	.|D	.|0	-15.8155|-15.8155	14.1366|14.1366	0.65291|0.65291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|189	.|Q504Y3	.|ZCPW2_HUMAN	L|C	73|189	.|ENSP00000373278:S189C;ENSP00000412386:S189C	.|ENSP00000373278:S189C	F|S	+|+	3|2	2|0	ZCWPW2|ZCWPW2	28495382|28495382	0.922000|0.922000	0.31269|0.31269	0.105000|0.105000	0.21289|0.21289	0.529000|0.529000	0.34654|0.34654	3.660000|3.660000	0.54496|0.54496	2.479000|2.479000	0.83701|0.83701	0.585000|0.585000	0.79938|0.79938	TTC|TCT		0.294	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1		XM_087384		7	40	0	0	0	0.004482	0	7	40		
STT3B	201595	broad.mit.edu	37	3	31638349	31638349	+	Silent	SNP	C	C	T	rs567611130		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:31638349C>T	ENST00000295770.2	+	4	980	c.771C>T	c.(769-771)ttC>ttT	p.F257F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	257					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATCCTATTTCTATATGGTAA	0.313																																						uc011axe.1		NaN																	0					0						c.(769-771)TTC>TTT		source of immunodominant MHC-associated							120.0	118.0	119.0					3																	31638349		2201	4296	6497	SO:0001819	synonymous_variant	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31638349C>T	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.771C>T	3.37:g.31638349C>T						STT3B_uc010hft.1_Silent_p.F257F|STT3B_uc003cer.1_Silent_p.F257F|STT3B_uc003cet.2_Silent_p.F8F	p.F257F	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN			4	771	+			257			Helical; (Potential).		Q96JZ4|Q96KY7	Silent	SNP	ENST00000295770.2	37	c.771C>T	CCDS2650.1																																																																																				0.313	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2		NM_178862		13	43	0	0	0	0.024245	0	13	43		
TRIM71	131405	broad.mit.edu	37	3	32932410	32932410	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:32932410G>C	ENST00000383763.5	+	4	1777	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	572					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGCACATTGAGAACAGCCC	0.582																																						uc003cff.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1714-1716)GAG>CAG		tripartite motif-containing 71							77.0	79.0	78.0					3																	32932410		2152	4245	6397	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932410G>C		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1714G>C	3.37:g.32932410G>C	ENSP00000373272:p.Glu572Gln						p.E572Q	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	1777	+			572			Filamin.			Missense_Mutation	SNP	ENST00000383763.5	37	c.1714G>C	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893518	0.17613	.	.	ENSG00000206557	ENST00000383763	D	0.84070	-1.8	5.71	4.83	0.62350	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.103438	0.64402	D	0.000003	T	0.61413	0.2345	N	0.02225	-0.63	0.54753	D	0.999988	B	0.16166	0.016	B	0.14578	0.011	T	0.59461	-0.7450	10	0.14252	T	0.57	-50.1245	13.8854	0.63706	0.0755:0.0:0.9245:0.0	.	572	Q2Q1W2	LIN41_HUMAN	Q	572	ENSP00000373272:E572Q	ENSP00000373272:E572Q	E	+	1	0	TRIM71	32907414	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	4.903000	0.63272	2.700000	0.92200	0.650000	0.86243	GAG		0.582	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3		NM_001039111		21	86	0	0	0	0.012319	0	21	86		
KLHL40	131377	broad.mit.edu	37	3	42727789	42727789	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:42727789C>T	ENST00000287777.4	+	1	779	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	227	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CGTGCGCTGCCGCTTGCTGCC	0.706																																						uc003clv.1		NaN																	0				ovary(1)	1						c.(679-681)CGC>TGC		kelch repeat and BTB (POZ) domain containing 5							11.0	12.0	12.0					3																	42727789		2192	4270	6462	SO:0001583	missense	131377							g.chr3:42727789C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.679C>T	3.37:g.42727789C>T	ENSP00000287777:p.Arg227Cys						p.R227C	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	779	+			227			BACK.		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.679C>T	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715934	0.68844	.	.	ENSG00000157119	ENST00000287777	T	0.69306	-0.39	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	L	0.47716	1.5	0.80722	D	1	B	0.26602	0.154	B	0.27076	0.076	T	0.62369	-0.6869	10	0.44086	T	0.13	.	17.5196	0.87783	0.0:1.0:0.0:0.0	.	227	Q2TBA0	KBTB5_HUMAN	C	227	ENSP00000287777:R227C	ENSP00000287777:R227C	R	+	1	0	KBTBD5	42702793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.640000	0.83355	2.391000	0.81399	0.655000	0.94253	CGC		0.706	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1		NM_152393		7	4	0	0	0	0.02938	0	7	4		
POMGNT2	84892	broad.mit.edu	37	3	43122017	43122017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:43122017C>A	ENST00000344697.2	-	2	1252	c.907G>T	c.(907-909)Gag>Tag	p.E303*	POMGNT2_ENST00000441964.1_Nonsense_Mutation_p.E303*	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	303					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										AGCTCTGCCTCATTCAGAATG	0.552																																						uc003cmq.1		NaN																	0				ovary(1)|skin(1)	2						c.(907-909)GAG>TAG		glycosyltransferase precursor							68.0	68.0	68.0					3																	43122017		2203	4300	6503	SO:0001587	stop_gained	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43122017C>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.907G>T	3.37:g.43122017C>A	ENSP00000344125:p.Glu303*					C3orf39_uc003cmr.1_Nonsense_Mutation_p.E303*	p.E303*	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	1048	-			303					B3KWC3|Q96SY3	Nonsense_Mutation	SNP	ENST00000344697.2	37	c.907G>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	C	38	6.740929	0.97805	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	.	.	.	5.78	5.78	0.91487	.	0.050515	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.0185	18.9949	0.92809	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000344125:E303X	E	-	1	0	C3orf39	43097021	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	6.042000	0.70996	2.731000	0.93534	0.650000	0.86243	GAG		0.552	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1		NM_032806		23	80	1	0	6.44725e-10	0.014323	6.94575e-10	23	80		
ZKSCAN7	55888	broad.mit.edu	37	3	44612265	44612265	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:44612265G>A	ENST00000273320.3	+	6	2092	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.E555K|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	555					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAGTGTAGTGAATGTGGCAA	0.438																																						uc010hin.2		NaN																	0				ovary(2)	2						c.(1663-1665)GAA>AAA		zinc finger protein 167 isoform 1							105.0	106.0	106.0					3																	44612265		2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612265G>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1663G>A	3.37:g.44612265G>A	ENSP00000273320:p.Glu555Lys					ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.E555K|ZNF167_uc003cnk.2_Intron	p.E555K	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	2051	+			555			C2H2-type 7.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1663G>A	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889227	0.33348	.	.	ENSG00000196345	ENST00000426540;ENST00000273320	T;T	0.07327	3.2;3.2	4.36	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.241453	0.21353	N	0.075937	T	0.08846	0.0219	L	0.35341	1.055	0.09310	N	0.999996	B	0.26363	0.147	B	0.31390	0.129	T	0.23547	-1.0185	10	0.62326	D	0.03	-12.3657	12.5131	0.56017	0.0:0.322:0.678:0.0	.	555	Q9P0L1	ZN167_HUMAN	K	555	ENSP00000395524:E555K;ENSP00000273320:E555K	ENSP00000273320:E555K	E	+	1	0	ZNF167	44587269	0.000000	0.05858	0.769000	0.31535	0.983000	0.72400	0.199000	0.17237	1.052000	0.40392	0.655000	0.94253	GAA		0.438	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4		NM_018651		13	82	0	0	0	0.013537	0	13	82		
SCAP	22937	broad.mit.edu	37	3	47470073	47470073	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:47470073C>T	ENST00000265565.5	-	4	752	c.340G>A	c.(340-342)Gta>Ata	p.V114I	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	114					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAACGAAATACATCTACTGCC	0.547																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NaN																	0				ovary(1)	1						c.(340-342)GTA>ATA		SREBF chaperone protein							152.0	145.0	147.0					3																	47470073		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47470073C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.340G>A	3.37:g.47470073C>T	ENSP00000265565:p.Val114Ile					SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	p.V114I	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	4	595	-			114			Lumenal (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.340G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	34	5.389889	0.95988	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603	T	0.80738	-1.41	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	L	0.60455	1.87	0.80722	D	1	P	0.51933	0.949	P	0.49047	0.599	T	0.81660	-0.0832	10	0.34782	T	0.22	-20.1586	19.0464	0.93020	0.0:1.0:0.0:0.0	.	114	Q12770	SCAP_HUMAN	I	114	ENSP00000265565:V114I	ENSP00000265565:V114I	V	-	1	0	SCAP	47445077	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	7.566000	0.82347	2.668000	0.90789	0.655000	0.94253	GTA		0.547	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2		NM_012235		61	88	0	0	0	0.01441	0	61	88		
GRM2	2912	broad.mit.edu	37	3	51746586	51746586	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:51746586G>A	ENST00000395052.3	+	3	782	c.548G>A	c.(547-549)cGc>cAc	p.R183H	GRM2_ENST00000442933.2_Missense_Mutation_p.R183H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	183					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R183H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TACTTTGCCCGCACAGTGCCT	0.542																																						uc010hlv.2		NaN																	1	Substitution - Missense(1)		breast(1)	lung(1)	1						c.(547-549)CGC>CAC		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						171.0	151.0	158.0					3																	51746586		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746586G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.548G>A	3.37:g.51746586G>A	ENSP00000378492:p.Arg183His					GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.R183H	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	787	+			183			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.548G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141549	0.94560	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.91295	-2.82;-2.82	5.04	5.04	0.67666	Extracellular ligand-binding receptor (1);	0.055708	0.64402	D	0.000001	D	0.96950	0.9004	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98074	1.0400	10	0.87932	D	0	.	18.7614	0.91853	0.0:0.0:1.0:0.0	.	183	Q14416	GRM2_HUMAN	H	183	ENSP00000378492:R183H;ENSP00000408906:R183H	ENSP00000296479:R183H	R	+	2	0	GRM2	51721626	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	9.869000	0.99810	2.524000	0.85096	0.655000	0.94253	CGC		0.542	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1				4	177	0	0	0	0.009096	0	4	177		
GLYCTK	132158	broad.mit.edu	37	3	52325777	52325777	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:52325777C>G	ENST00000436784.2	+	4	604	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	GLYCTK_ENST00000473032.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Missense_Mutation_p.L98V|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000305690.8_Missense_Mutation_p.L182V|GLYCTK_ENST00000471180.1_Missense_Mutation_p.L55V|GLYCTK_ENST00000354773.4_Intron|GLYCTK_ENST00000477382.1_Intron			Q8IVS8	GLCTK_HUMAN	glycerate kinase	182					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGTTCAGCTCTGCTGCCTGC	0.577											OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ddo.2		NaN																	0					0						c.(544-546)CTG>GTG		glycerate kinase isoform 1							61.0	59.0	59.0					3																	52325777		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52325777C>G		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.544C>G	3.37:g.52325777C>G	ENSP00000389175:p.Leu182Val		OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	984	GLYCTK_uc003ddq.2_Intron|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.L182V|GLYCTK_uc003ddr.2_5'Flank	p.L182V	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	4	640	+			182					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.544C>G	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661090	0.67700	.	.	ENSG00000168237	ENST00000461183;ENST00000305690;ENST00000471180;ENST00000436784	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.89	3.09	0.35607	.	0.000000	0.85682	D	0.000000	D	0.82995	0.5158	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83602	0.0129	10	0.66056	D	0.02	-14.6052	11.1477	0.48440	0.0:0.7928:0.0:0.2072	.	182;182	Q8IVS8-4;Q8IVS8	.;GLCTK_HUMAN	V	98;182;55;182	ENSP00000417264:L98V;ENSP00000301965:L182V;ENSP00000417526:L55V;ENSP00000389175:L182V	ENSP00000301965:L182V	L	+	1	2	GLYCTK	52300817	0.969000	0.33509	0.998000	0.56505	0.710000	0.40934	2.075000	0.41538	0.368000	0.24481	-0.216000	0.12614	CTG		0.577	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1		NM_145262		22	83	0	0	0	0.016522	0	22	83		
ERC2	26059	broad.mit.edu	37	3	56026169	56026169	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:56026169G>A	ENST00000288221.6	-	11	2426	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	724						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTCCACTTCCGCTTGGGCCTT	0.478																																						uc003dhr.1		NaN																	0				ovary(2)	2						c.(2170-2172)GCG>GTG		cytomatrix protein p110							192.0	188.0	189.0					3																	56026169		1917	4135	6052	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56026169G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2171C>T	3.37:g.56026169G>A	ENSP00000288221:p.Ala724Val					ERC2_uc003dht.1_Missense_Mutation_p.A207V	p.A724V	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	11	2427	-			724			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.2171C>T	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664093|2.664093	0.47572|0.47572	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.46819|.	0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.102906|.	0.64402|.	D|.	0.000003|.	T|T	0.72334|0.72334	0.3447|0.3447	M|M	0.70595|0.70595	2.14|2.14	0.32697|0.32697	N|N	0.513399|0.513399	P|.	0.40144|.	0.704|.	B|.	0.26614|.	0.071|.	T|T	0.76013|0.76013	-0.3114|-0.3114	10|5	0.62326|.	D|.	0.03|.	-11.3|-11.3	19.824|19.824	0.96608|0.96608	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	724|.	O15083|.	ERC2_HUMAN|.	V|W	724|375	ENSP00000288221:A724V|.	ENSP00000288221:A724V|.	A|R	-|-	2|1	0|2	ERC2|ERC2	56001209|56001209	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.925000|0.925000	0.55904|0.55904	6.567000|6.567000	0.73983|0.73983	2.699000|2.699000	0.92147|0.92147	0.591000|0.591000	0.81541|0.81541	GCG|CGG		0.478	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2		NM_015576		98	103	0	0	0	0.01441	0	98	103		
PDZRN3	23024	broad.mit.edu	37	3	73432662	73432662	+	Missense_Mutation	SNP	C	C	T	rs146957114		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:73432662C>T	ENST00000263666.4	-	10	3169	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1019					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1019K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGCTCAGTTCGAGAATGTTC	0.498																																						uc003dpl.1		NaN																	1	Substitution - Missense(1)		skin(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(3055-3057)GAA>AAA		PDZ domain containing ring finger 3		C	LYS/GLU	0,4406		0,0,2203	242.0	242.0	242.0		3055	4.8	0.7	3	dbSNP_134	242	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZRN3	NM_015009.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1019/1067	73432662	1,13005	2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432662C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3055G>A	3.37:g.73432662C>T	ENSP00000263666:p.Glu1019Lys					PDZRN3_uc011bgh.1_Missense_Mutation_p.E676K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E717K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E736K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E739K	p.E1019K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	3151	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	1019			Potential.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.3055G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312818	0.40895	0.0	1.16E-4	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.66	4.79	0.61399	.	0.211072	0.48286	D	0.000192	T	0.82195	0.4984	M	0.66939	2.045	0.58432	D	0.999996	D;D;D;D	0.61080	0.981;0.969;0.989;0.969	P;B;P;B	0.52856	0.651;0.306;0.711;0.306	D	0.84308	0.0509	10	0.72032	D	0.01	.	13.8131	0.63274	0.0:0.9261:0.0:0.0739	.	741;736;736;1019	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	K	1019;741;676;676;736	ENSP00000263666:E1019K;ENSP00000442026:E741K;ENSP00000418168:E676K;ENSP00000418484:E676K;ENSP00000418624:E736K	ENSP00000263666:E1019K	E	-	1	0	PDZRN3	73515352	1.000000	0.71417	0.694000	0.30210	0.003000	0.03518	5.842000	0.69417	1.385000	0.46445	0.655000	0.94253	GAA		0.498	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363		6	315	0	0	0	0.021553	0	6	315		
ROBO1	6091	broad.mit.edu	37	3	78666910	78666910	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:78666910C>T	ENST00000464233.1	-	27	4270	c.4157G>A	c.(4156-4158)gGa>gAa	p.G1386E	ROBO1_ENST00000436010.2_Missense_Mutation_p.G1347E|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1286E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1341E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1386					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTGGAGCGTCCGCTGGAAAT	0.577																																						uc003dqe.2		NaN																	0				large_intestine(2)	2						c.(4156-4158)GGA>GAA		roundabout 1 isoform a							53.0	60.0	58.0					3																	78666910		1972	4141	6113	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78666910C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4157G>A	3.37:g.78666910C>T	ENSP00000420321:p.Gly1386Glu					ROBO1_uc003dqb.2_Missense_Mutation_p.G1347E|ROBO1_uc003dqc.2_Missense_Mutation_p.G1286E|ROBO1_uc003dqd.2_Missense_Mutation_p.G1341E|ROBO1_uc010hoh.2_Missense_Mutation_p.G578E|ROBO1_uc011bgl.1_Missense_Mutation_p.G958E	p.G1386E	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	27	4365	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1386			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4157G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427821	0.62733	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.60171	0.31;0.29;0.29;0.21	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	N	0.22421	0.69	0.80722	D	1	D;B;D;P;D	0.89917	1.0;0.067;1.0;0.788;0.974	D;B;D;B;P	0.91635	0.999;0.008;0.999;0.13;0.649	T	0.61879	-0.6972	9	.	.	.	.	20.1554	0.98111	0.0:1.0:0.0:0.0	.	1350;1386;1341;1286;1347	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	E	1347;1341;1386;1341;1286;1390	ENSP00000406043:G1347E;ENSP00000420321:G1386E;ENSP00000420637:G1341E;ENSP00000417992:G1286E	.	G	-	2	0	ROBO1	78749600	1.000000	0.71417	0.685000	0.30070	0.119000	0.20118	7.445000	0.80570	2.838000	0.97847	0.591000	0.81541	GGA		0.577	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941		9	30	0	0	0	0.006214	0	9	30		
OR5H6	79295	broad.mit.edu	37	3	97983269	97983269	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:97983269C>G	ENST00000383696.2	+	1	182	c.141C>G	c.(139-141)ttC>ttG	p.F47L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCCTGGCATTCTTGGTAATAT	0.413																																						uc003dsi.1		NaN																	0				skin(2)|large_intestine(1)	3						c.(139-141)TTC>TTG		olfactory receptor, family 5, subfamily H,							207.0	217.0	213.0					3																	97983269		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983269C>G	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.141C>G	3.37:g.97983269C>G	ENSP00000373196:p.Phe47Leu						p.F47L	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	141	+			47			Helical; Name=1; (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.141C>G	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	13.11	2.139695	0.37728	.	.	ENSG00000230301	ENST00000383696	T	0.04454	3.62	2.19	0.231	0.15377	.	0.000000	0.44902	D	0.000416	T	0.13756	0.0333	M	0.66297	2.02	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02533	-1.1145	10	0.72032	D	0.01	.	6.0007	0.19519	0.0:0.6814:0.0:0.3186	.	47	Q8NGV6	OR5H6_HUMAN	L	47	ENSP00000373196:F47L	ENSP00000373196:F47L	F	+	3	2	OR5H6	99465959	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.601000	0.05687	0.251000	0.21505	0.194000	0.17425	TTC		0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2				70	187	0	0	0	0.01441	0	70	187		
COPB2	9276	broad.mit.edu	37	3	139085454	139085454	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:139085454G>A	ENST00000333188.5	-	15	2021	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S	COPB2_ENST00000507777.1_Missense_Mutation_p.P585S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	614					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGTTCTTTTGGAATGGTAGGA	0.403																																						uc003etf.3		NaN																	0				ovary(2)	2						c.(1840-1842)CCA>TCA		coatomer protein complex, subunit beta 2 (beta							72.0	72.0	72.0					3																	139085454		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085454G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1840C>T	3.37:g.139085454G>A	ENSP00000329419:p.Pro614Ser					COPB2_uc011bmv.1_Missense_Mutation_p.P585S|COPB2_uc010hui.2_Missense_Mutation_p.P585S	p.P614S	NM_004766	NP_004757	P35606	COPB2_HUMAN			15	1970	-			614					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1840C>T	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811499	0.70797	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.63255	-0.03;0.08	5.83	5.83	0.93111	Coatomer, WD associated region (1);	0.047480	0.85682	D	0.000000	T	0.71609	0.3360	M	0.75615	2.305	0.80722	D	1	B	0.33413	0.411	B	0.42653	0.394	T	0.67699	-0.5603	10	0.33940	T	0.23	-10.277	20.1197	0.97955	0.0:0.0:1.0:0.0	.	614	P35606	COPB2_HUMAN	S	614;585	ENSP00000329419:P614S;ENSP00000422295:P585S	ENSP00000329419:P614S	P	-	1	0	COPB2	140568144	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.765000	0.98953	2.770000	0.95276	0.650000	0.86243	CCA		0.403	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2		NM_004766		6	34	0	0	0	0.02938	0	6	34		
MECOM	2122	broad.mit.edu	37	3	169099220	169099220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:169099220G>A	ENST00000494292.1	-	2	227	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	44					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGGCTCTTGAATATTGAGG	0.473																																						uc011bpj.1		NaN																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(130-132)CAA>TAA		MDS1 and EVI1 complex locus isoform c							67.0	68.0	68.0					3																	169099220		1922	4130	6052	SO:0001587	stop_gained	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169099220G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.130C>T	3.37:g.169099220G>A	ENSP00000417899:p.Gln44*					MECOM_uc003ffl.2_Nonsense_Mutation_p.Q16*|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Nonsense_Mutation_p.Q44*|MECOM_uc011bpl.1_Nonsense_Mutation_p.Q44*	p.Q44*	NM_004991	NP_004982	Q03112	EVI1_HUMAN			2	533	-			Error:Variant_position_missing_in_Q03112_after_alignment					Q13466|Q6FH90	Nonsense_Mutation	SNP	ENST00000494292.1	37	c.130C>T		.	.	.	.	.	.	.	.	.	.	G	8.172	0.791880	0.16258	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	.	.	.	5.92	5.92	0.95590	.	0.103446	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	.	.	.	X	44;68	.	ENSP00000419537:Q68X	Q	-	1	0	MECOM	170581914	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	5.904000	0.69886	2.822000	0.97130	0.650000	0.86243	CAA		0.473	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3		NM_005241, NM_004991		4	35	0	0	0	0.009096	0	4	35		
MAP3K13	9175	broad.mit.edu	37	3	185181390	185181390	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr3:185181390G>A	ENST00000265026.3	+	8	1665	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	MAP3K13_ENST00000446828.1_Missense_Mutation_p.G237E|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G444E|MAP3K13_ENST00000535426.1_Missense_Mutation_p.G300E|MAP3K13_ENST00000443863.1_Missense_Mutation_p.G300E	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAAGTGAAGGAACTTGTATA	0.443																																						uc010hyf.2		NaN																	0				ovary(2)|skin(1)	3						c.(1330-1332)GGA>GAA		mitogen-activated protein kinase kinase kinase							137.0	130.0	132.0					3																	185181390		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185181390G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1331G>A	3.37:g.185181390G>A	ENSP00000265026:p.Gly444Glu					MAP3K13_uc011brt.1_Missense_Mutation_p.G237E|MAP3K13_uc011bru.1_Missense_Mutation_p.G300E|MAP3K13_uc003fpi.2_Missense_Mutation_p.G444E|MAP3K13_uc010hyg.2_Missense_Mutation_p.G134E	p.G444E	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		9	1597	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		444			Leucine-zipper 1.			Missense_Mutation	SNP	ENST00000265026.3	37	c.1331G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325117	0.60634	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	T;T;T;T;T;T	0.76839	-1.05;-1.02;-0.92;-0.92;-1.02;-0.8	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	L	0.40543	1.245	0.80722	D	1	P;P;P	0.37276	0.537;0.537;0.589	P;P;B	0.47251	0.542;0.542;0.417	T	0.69296	-0.5182	10	0.06099	T	0.92	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	300;237;444	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	E	237;444;300;300;444;189	ENSP00000411483:G237E;ENSP00000399910:G444E;ENSP00000409325:G300E;ENSP00000439257:G300E;ENSP00000265026:G444E;ENSP00000415712:G189E	ENSP00000265026:G444E	G	+	2	0	MAP3K13	186664084	1.000000	0.71417	0.966000	0.40874	0.935000	0.57460	9.830000	0.99415	2.745000	0.94114	0.655000	0.94253	GGA		0.443	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		7	74	0	0	0	0.02938	0	7	74		
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647																																						uc003gla.2		NaN																	0				ovary(1)	1						c.(1207-1209)CAA>CGA		HtrA serine peptidase 3 precursor							102.0	91.0	95.0					4																	8307709		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307709A>G	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1208A>G	4.37:g.8307709A>G	ENSP00000303766:p.Gln403Arg						p.Q403R	NM_053044	NP_444272	P83110	HTRA3_HUMAN			9	1412	+			403			PDZ.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.1208A>G	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	A	8.473	0.857947	0.17178	.	.	ENSG00000170801	ENST00000307358	T	0.71934	-0.61	4.08	4.08	0.47627	PDZ/DHR/GLGF (4);	0.281603	0.34652	N	0.003791	T	0.47340	0.1440	N	0.05414	-0.055	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40346	-0.9568	10	0.10111	T	0.7	-15.1546	13.3595	0.60648	1.0:0.0:0.0:0.0	.	403	P83110	HTRA3_HUMAN	R	403	ENSP00000303766:Q403R	ENSP00000303766:Q403R	Q	+	2	0	HTRA3	8358609	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.548000	0.60718	1.635000	0.50512	0.248000	0.18094	CAA		0.647	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1		NM_053044		4	79	0	0	0	0.014758	0	4	79		
SEMA5A	9037	broad.mit.edu	37	5	9190451	9190451	+	Missense_Mutation	SNP	G	G	A	rs141668225	byFrequency	TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:9190451G>A	ENST00000382496.5	-	11	1866	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	401	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGGGAAAAGCGGCTATTGTCC	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		18570	0.0		0.0	False		,,,				2504	0.002					uc003jek.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1201-1203)CGC>TGC		semaphorin 5A precursor		G	CYS/ARG	0,4406		0,0,2203	116.0	93.0	101.0		1201	5.8	1.0	5	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	no	missense	SEMA5A	NM_003966.2	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	401/1075	9190451	2,13004	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9190451G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1201C>T	5.37:g.9190451G>A	ENSP00000371936:p.Arg401Cys						p.R401C	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			11	1913	-			401			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1201C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681034	0.88542	0.0	2.33E-4	ENSG00000112902	ENST00000382496	T	0.12984	2.63	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63963	-0.6518	10	0.87932	D	0	.	17.4537	0.87600	0.0:0.0:1.0:0.0	.	401	Q13591	SEM5A_HUMAN	C	401	ENSP00000371936:R401C	ENSP00000371936:R401C	R	-	1	0	SEMA5A	9243451	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	9.647000	0.98478	2.716000	0.92895	0.655000	0.94253	CGC		0.567	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				26	69	0	0	0	0.027356	0	26	69		
ROPN1L	83853	broad.mit.edu	37	5	10450167	10450167	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:10450167G>C	ENST00000503804.1	+	4	880	c.359G>C	c.(358-360)tGt>tCt	p.C120S	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.C120S			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	120					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CTGGATCCTTGTGAAAACAAA	0.408																																						uc003jex.3		NaN																	0				ovary(1)	1						c.(358-360)TGT>TCT		ropporin 1-like							124.0	120.0	121.0					5																	10450167		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10450167G>C	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.359G>C	5.37:g.10450167G>C	ENSP00000421405:p.Cys120Ser						p.C120S	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			3	630	+			120					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.359G>C	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385515	0.25031	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.19394	2.15;2.15	5.09	1.71	0.24356	.	0.102526	0.64402	D	0.000002	T	0.16896	0.0406	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.18304	-1.0341	10	0.59425	D	0.04	-18.8656	5.7853	0.18331	0.0972:0.0:0.4287:0.4741	.	120	Q96C74	ROP1L_HUMAN	S	120	ENSP00000421405:C120S;ENSP00000274134:C120S	ENSP00000274134:C120S	C	+	2	0	ROPN1L	10503167	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	4.259000	0.58828	0.622000	0.30249	-0.136000	0.14681	TGT		0.408	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1		NM_031916		20	103	0	0	0	0.012319	0	20	103		
SPEF2	79925	broad.mit.edu	37	5	35709167	35709167	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:35709167T>C	ENST00000356031.3	+	19	2937	c.2783T>C	c.(2782-2784)aTt>aCt	p.I928T	SPEF2_ENST00000509059.1_Missense_Mutation_p.I923T|SPEF2_ENST00000440995.2_Missense_Mutation_p.I923T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	928					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAGGAAATTCATCAAAGC	0.423																																						uc003jjo.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2782-2784)ATT>ACT		KPL2 protein isoform 1							89.0	88.0	88.0					5																	35709167		1866	4099	5965	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35709167T>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2783T>C	5.37:g.35709167T>C	ENSP00000348314:p.Ile928Thr					SPEF2_uc003jjq.3_Missense_Mutation_p.I923T|SPEF2_uc003jjp.1_Missense_Mutation_p.I414T	p.I928T	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		19	2894	+	all_lung(31;7.56e-05)		928					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2783T>C	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	7.073	0.568773	0.13560	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995	T;T;T	0.07327	3.35;3.2;3.36	5.82	-11.6	0.00059	.	2.617190	0.01306	N	0.010462	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26052	-1.0114	10	0.26408	T	0.33	.	7.7579	0.28936	0.1729:0.5531:0.0876:0.1864	.	923;923;928	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	T	928;923;923	ENSP00000348314:I928T;ENSP00000421593:I923T;ENSP00000412125:I923T	ENSP00000348314:I928T	I	+	2	0	SPEF2	35744924	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-2.223000	0.01214	-2.193000	0.00754	-1.069000	0.02264	ATT		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722		6	82	0	0	0	0.021553	0	6	82		
FBN2	2201	broad.mit.edu	37	5	127638767	127638767	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:127638767C>T	ENST00000508053.1	-	52	6789	c.5815G>A	c.(5815-5817)Gag>Aag	p.E1939K	FBN2_ENST00000262464.4_Missense_Mutation_p.E1939K			P35556	FBN2_HUMAN	fibrillin 2	1939	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGATGCCGCTCGCACTCATCA	0.348																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5815-5817)GAG>AAG		fibrillin 2 precursor							110.0	111.0	111.0					5																	127638767		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127638767C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5815G>A	5.37:g.127638767C>T	ENSP00000424571:p.Glu1939Lys						p.E1939K	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	46	6254	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1939			EGF-like 32; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5815G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239375	0.79800	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91996	-2.95;-2.95	5.18	5.18	0.71444	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.103520	0.42548	D	0.000698	D	0.86711	0.5998	N	0.04805	-0.155	0.58432	D	0.999994	D	0.55385	0.971	P	0.48873	0.593	D	0.86304	0.1682	10	0.25106	T	0.35	.	18.8763	0.92337	0.0:1.0:0.0:0.0	.	1939	P35556	FBN2_HUMAN	K	1939	ENSP00000262464:E1939K;ENSP00000424571:E1939K	ENSP00000262464:E1939K	E	-	1	0	FBN2	127666666	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.609000	0.82925	2.700000	0.92200	0.655000	0.94253	GAG		0.348	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		31	6	0	0	0	0.012213	0	31	6		
ANKHD1	54882	broad.mit.edu	37	5	139889761	139889761	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:139889761C>T	ENST00000360839.2	+	22	4253	c.4099C>T	c.(4099-4101)Cgc>Tgc	p.R1367C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1367C|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1367C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1367						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGCATTTCGCAAGGTAAT	0.388																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(4099-4101)CGC>TGC		ANKHD1-EIF4EBP3 protein							72.0	70.0	70.0					5																	139889761		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139889761C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4099C>T	5.37:g.139889761C>T	ENSP00000354085:p.Arg1367Cys					ANKHD1_uc003lfq.1_Missense_Mutation_p.R1386C|ANKHD1_uc003lfr.2_Missense_Mutation_p.R1367C|ANKHD1_uc003lft.1_Missense_Mutation_p.R578C|ANKHD1_uc003lfu.1_Missense_Mutation_p.R847C|ANKHD1_uc003lfv.1_Missense_Mutation_p.R444C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R106C|ANKHD1_uc003lfw.2_Missense_Mutation_p.R5C	p.R1367C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	4223	+			1367					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4099C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964450	0.92791	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000431508;ENST00000532219	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.08;-0.25	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.996;0.996;0.998;0.998;0.998	T	0.79752	-0.1671	10	0.66056	D	0.02	.	19.8369	0.96660	0.0:1.0:0.0:0.0	.	1367;578;1367;1386;1367;1367	E9PF56;E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	C	1367;1400;1367;1367;901;578;1386;520;23;1367	ENSP00000354085:R1367C;ENSP00000297183:R1367C;ENSP00000394489:R1386C;ENSP00000405602:R520C;ENSP00000393204:R23C;ENSP00000432016:R1367C	ENSP00000432016:R1367C	R	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139869945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.767000	0.95098	0.591000	0.81541	CGC		0.388	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		4	23	0	0	0	0.014758	0	4	23		
DCTN4	51164	broad.mit.edu	37	5	150099298	150099298	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:150099298G>A	ENST00000447998.2	-	10	1058	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	DCTN4_ENST00000424236.1_Missense_Mutation_p.P258S|DCTN4_ENST00000446090.2_Missense_Mutation_p.P322S	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	315					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAAGGTTGGGAATTGACATG	0.333																																						uc003lsv.2		NaN																	0				central_nervous_system(1)	1						c.(943-945)CCC>TCC		dynactin 4 (p62) isoform b							115.0	110.0	111.0					5																	150099298		2203	4300	6503	SO:0001583	missense	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150099298G>A	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.943C>T	5.37:g.150099298G>A	ENSP00000416968:p.Pro315Ser					DCTN4_uc003lsu.2_Missense_Mutation_p.P258S|DCTN4_uc010jhi.2_Missense_Mutation_p.P322S	p.P315S	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1045	-		Medulloblastoma(196;0.167)	315					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	c.943C>T	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985822	0.74589	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.21191	2.02;2.02;2.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.929;0.999	T	0.02226	-1.1192	10	0.18276	T	0.48	-6.2215	20.0333	0.97547	0.0:0.0:1.0:0.0	.	322;315	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	S	315;258;322	ENSP00000416968:P315S;ENSP00000411251:P258S;ENSP00000414906:P322S	ENSP00000411251:P258S	P	-	1	0	DCTN4	150079491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.101000	0.94219	2.810000	0.96702	0.585000	0.79938	CCC		0.333	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1				19	2	0	0	0	0.008871	0	19	2		
STK10	6793	broad.mit.edu	37	5	171472003	171472003	+	Missense_Mutation	SNP	C	C	G	rs373624338		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:171472003C>G	ENST00000176763.5	-	19	3133	c.2790G>C	c.(2788-2790)caG>caC	p.Q930H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	930					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCTTCTTCTGGTTCAGAT	0.587																																						uc003mbo.1		NaN																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2788-2790)CAG>CAC		serine/threonine kinase 10							85.0	75.0	78.0					5																	171472003		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171472003C>G	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2790G>C	5.37:g.171472003C>G	ENSP00000176763:p.Gln930His						p.Q930H	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	3090	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	930			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2790G>C	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746791	0.49257	.	.	ENSG00000072786	ENST00000176763;ENST00000520476;ENST00000545839	T	0.67523	-0.27	4.54	4.54	0.55810	.	0.307787	0.31949	N	0.006806	T	0.52693	0.1750	L	0.31664	0.95	0.37921	D	0.931709	B	0.12630	0.006	B	0.12837	0.008	T	0.55835	-0.8078	10	0.48119	T	0.1	.	10.117	0.42596	0.2001:0.7999:0.0:0.0	.	930	O94804	STK10_HUMAN	H	930;221;930	ENSP00000176763:Q930H	ENSP00000176763:Q930H	Q	-	3	2	STK10	171404608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.010000	0.40913	2.066000	0.61787	0.655000	0.94253	CAG		0.587	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2		NM_005990		13	35	0	0	0	0.016723	0	13	35		
FGFR4	2264	broad.mit.edu	37	5	176523291	176523291	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr5:176523291C>T	ENST00000292408.4	+	15	2193	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	FGFR4_ENST00000393637.1_Missense_Mutation_p.R610C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R610C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R582C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R650C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CCTCCAGGGCCGCCTGCCTGT	0.672										TSP Lung(9;0.080)																												uc003mfl.2		NaN																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(1948-1950)CGC>TGC		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						60.0	63.0	62.0					5																	176523291		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523291C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1948C>T	5.37:g.176523291C>T	ENSP00000292408:p.Arg650Cys	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.R650C|FGFR4_uc011dfu.1_Missense_Mutation_p.R582C|FGFR4_uc003mfo.2_Missense_Mutation_p.R610C	p.R650C	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2115	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	650			Protein kinase.|Cytoplasmic (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1948C>T	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	c	28.7	4.946274	0.92593	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	L	0.41961	1.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.94346	0.7575	10	0.87932	D	0	.	17.1688	0.86824	0.0:1.0:0.0:0.0	.	582;610;650	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	C	650;582;650;610;610;878	ENSP00000292408:R650C;ENSP00000377259:R582C;ENSP00000424960:R650C;ENSP00000292410:R610C;ENSP00000377254:R610C	ENSP00000292408:R650C	R	+	1	0	FGFR4	176455897	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.815000	0.86186	2.142000	0.66516	0.556000	0.70494	CGC		0.672	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1				13	42	0	0	0	0.028581	0	13	42		
ZBTB12	221527	broad.mit.edu	37	6	31868680	31868680	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:31868680C>G	ENST00000375527.2	-	2	578	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						ACCCCATCCTCTTTGAGGCCT	0.602																																						uc003nyd.1		NaN																	0					0						c.(403-405)GAG>CAG		zinc finger and BTB domain containing 12							73.0	73.0	73.0					6																	31868680		2203	4300	6503	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868680C>G	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.403G>C	6.37:g.31868680C>G	ENSP00000364677:p.Glu135Gln					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	p.E135Q	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			2	579	-			135					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.403G>C	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539255	0.45176	.	.	ENSG00000204366	ENST00000375527	T	0.13420	2.59	4.38	4.38	0.52667	.	0.711731	0.13146	U	0.410251	T	0.03564	0.0102	N	0.19112	0.55	0.34173	D	0.669992	P	0.43477	0.808	B	0.35859	0.212	T	0.45775	-0.9238	10	0.18276	T	0.48	.	15.7195	0.77697	0.0:1.0:0.0:0.0	.	135	Q9Y330	ZBT12_HUMAN	Q	135	ENSP00000364677:E135Q	ENSP00000364677:E135Q	E	-	1	0	ZBTB12	31976659	0.749000	0.28305	0.998000	0.56505	0.956000	0.61745	1.203000	0.32284	1.975000	0.57531	0.423000	0.28283	GAG		0.602	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2		NM_181842		22	48	0	0	0	0.01892	0	22	48		
SCUBE3	222663	broad.mit.edu	37	6	35207570	35207570	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:35207570A>G	ENST00000274938.7	+	8	871	c.871A>G	c.(871-873)Att>Gtt	p.I291V	SCUBE3_ENST00000394681.1_Missense_Mutation_p.I307V	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTGTGACCATATTTGCCGCAA	0.463																																						uc003okf.1		NaN																	0				skin(1)	1						c.(871-873)ATT>GTT		signal peptide, CUB domain, EGF-like 3							107.0	104.0	105.0					6																	35207570		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35207570A>G	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.871A>G	6.37:g.35207570A>G	ENSP00000274938:p.Ile291Val					SCUBE3_uc003okg.1_Missense_Mutation_p.I290V|SCUBE3_uc003okh.1_Missense_Mutation_p.I178V	p.I291V	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			8	877	+			291			EGF-like 7; calcium-binding (Potential).			Missense_Mutation	SNP	ENST00000274938.7	37	c.871A>G	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	A	9.986	1.229539	0.22542	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96522	-4.04;-4.04	5.66	4.47	0.54385	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.058551	0.64402	D	0.000001	D	0.85128	0.5626	N	0.21508	0.67	0.37519	D	0.917449	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.78685	-0.2108	10	0.23891	T	0.37	.	8.045	0.30545	0.7235:0.1415:0.0:0.135	.	307;291	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	V	307;291	ENSP00000378174:I307V;ENSP00000274938:I291V	ENSP00000274938:I291V	I	+	1	0	SCUBE3	35315548	1.000000	0.71417	0.997000	0.53966	0.658000	0.38924	4.125000	0.57931	0.929000	0.37192	0.533000	0.62120	ATT		0.463	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1		NM_152753		3	75	0	0	0	0.009096	0	3	75		
CDK19	23097	broad.mit.edu	37	6	110943360	110943360	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:110943360G>A	ENST00000368911.3	-	11	1220	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	CDK19_ENST00000323817.3_Silent_p.A287A|CDK19_ENST00000413605.2_Silent_p.A223A	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	347							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGGCAGCCGGCAAATACAC	0.318																																						uc003puh.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1039-1041)GCC>GCT		cell division cycle 2-like 6 (CDK8-like)							132.0	138.0	136.0					6																	110943360		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110943360G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1041C>T	6.37:g.110943360G>A						CDK19_uc003pui.1_Silent_p.A287A|CDK19_uc011eax.1_Silent_p.A223A	p.A347A	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			11	1114	-			347					Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.1041C>T	CCDS5085.1																																																																																				0.318	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1		NM_015076		3	73	0	0	0	0.009096	0	3	73		
LATS1	9113	broad.mit.edu	37	6	150001017	150001017	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:150001017G>C	ENST00000543571.1	-	5	3134	c.2587C>G	c.(2587-2589)Cag>Gag	p.Q863E	LATS1_ENST00000253339.5_Missense_Mutation_p.Q863E|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTACCACTCTGATAGTACTTA	0.313																																						uc003qmu.1		NaN																	0				lung(5)|central_nervous_system(1)	6						c.(2587-2589)CAG>GAG		LATS homolog 1							48.0	49.0	49.0					6																	150001017		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001017G>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2587C>G	6.37:g.150001017G>C	ENSP00000437550:p.Gln863Glu					LATS1_uc010kif.1_Missense_Mutation_p.Q758E|LATS1_uc003qmv.1_Missense_Mutation_p.Q863E	p.Q863E	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	3135	-		Ovarian(120;0.0164)	863			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2587C>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209483	0.79240	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54279	0.58;0.58	5.65	5.65	0.86999	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000037	T	0.31420	0.0796	N	0.21282	0.65	0.80722	D	1	B	0.28470	0.213	B	0.34824	0.19	T	0.13442	-1.0509	9	.	.	.	.	20.0781	0.97751	0.0:0.0:1.0:0.0	.	863	O95835	LATS1_HUMAN	E	863	ENSP00000437550:Q863E;ENSP00000253339:Q863E	.	Q	-	1	0	LATS1	150042710	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.009000	0.88606	2.817000	0.96982	0.563000	0.77884	CAG		0.313	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4		NM_004690		15	21	0	0	0	0.024245	0	15	21		
SYNE1	23345	broad.mit.edu	37	6	152461088	152461088	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:152461088G>C	ENST00000367255.5	-	140	26056	c.25455C>G	c.(25453-25455)ctC>ctG	p.L8485L	SYNE1_ENST00000356820.4_Silent_p.L3009L|SYNE1_ENST00000354674.4_Silent_p.L663L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Silent_p.L640L|SYNE1_ENST00000341594.5_Silent_p.L8097L|SYNE1_ENST00000423061.1_Silent_p.L8437L|SYNE1_ENST00000265368.4_Silent_p.L8485L|SYNE1_ENST00000448038.1_Silent_p.L8437L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8485					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCTACCTTGAGCTTTTTGA	0.587										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25453-25455)CTC>CTG		spectrin repeat containing, nuclear envelope 1							76.0	63.0	67.0					6																	152461088		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461088G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25455C>G	6.37:g.152461088G>C		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L3009L|SYNE1_uc003qos.3_Silent_p.L3009L|SYNE1_uc003qot.3_Silent_p.L8437L|SYNE1_uc003qou.3_Silent_p.L8485L|SYNE1_uc003qop.3_Silent_p.L670L|SYNE1_uc011eez.1_Silent_p.L687L|SYNE1_uc003qoq.3_Silent_p.L687L|SYNE1_uc003qor.3_Silent_p.L1408L	p.L8485L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	140	26057	-		Ovarian(120;0.0955)	8485			Cytoplasmic (Potential).|Spectrin 31.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.25455C>G	CCDS5236.2																																																																																				0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		9	45	0	0	0	0.004482	0	9	45		
GPR141	353345	broad.mit.edu	37	7	37780343	37780343	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:37780343C>G	ENST00000447769.1	+	4	637	c.348C>G	c.(346-348)atC>atG	p.I116M	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.I116M|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATACCTCATCTTCTTCAAGT	0.493																																						uc003tfm.1		NaN																	0				ovary(3)	3						c.(346-348)ATC>ATG		G protein-coupled receptor 141							137.0	128.0	131.0					7																	37780343		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780343C>G	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.348C>G	7.37:g.37780343C>G	ENSP00000390410:p.Ile116Met					uc003tfl.2_Intron	p.I116M	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	348	+			116			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.348C>G	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972682	0.53614	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.38077	1.16;1.16	5.06	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.448742	0.24426	N	0.038622	T	0.49490	0.1560	M	0.66939	2.045	0.80722	D	1	D	0.53151	0.958	P	0.59948	0.866	T	0.43734	-0.9373	10	0.66056	D	0.02	-11.4152	8.2951	0.31980	0.0:0.6459:0.0:0.3541	.	116	Q7Z602	GP141_HUMAN	M	116	ENSP00000390410:I116M;ENSP00000334540:I116M	ENSP00000334540:I116M	I	+	3	3	GPR141	37746868	0.954000	0.32549	1.000000	0.80357	0.990000	0.78478	0.236000	0.17967	0.216000	0.20781	0.650000	0.86243	ATC		0.493	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2		NM_181791		13	91	0	0	0	0.024245	0	13	91		
LIMK1	3984	broad.mit.edu	37	7	73513430	73513430	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:73513430C>T	ENST00000336180.2	+	5	521	c.470C>T	c.(469-471)tCc>tTc	p.S157F	LIMK1_ENST00000538333.3_Missense_Mutation_p.S123F|LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000418310.1_Missense_Mutation_p.S187F	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	157					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TCCCCTGGCTCCCACCTGCCC	0.647																																						uc003uaa.1		NaN																	0				stomach(2)|ovary(1)	3						c.(469-471)TCC>TTC		LIM domain kinase 1							150.0	121.0	131.0					7																	73513430		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73513430C>T	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.470C>T	7.37:g.73513430C>T	ENSP00000336740:p.Ser157Phe					RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.S123F|LIMK1_uc003uac.1_5'UTR	p.S157F	NM_002314	NP_002305	P53667	LIMK1_HUMAN			5	635	+		Lung NSC(55;0.137)	157					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.470C>T	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983177	0.53827	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000423685;ENST00000538333	T;T;T;T	0.75821	-0.95;-0.93;0.52;-0.97	5.48	4.6	0.57074	PDZ/DHR/GLGF (1);	0.114381	0.64402	D	0.000008	T	0.64294	0.2585	L	0.38531	1.155	0.58432	D	0.999996	B;B	0.17465	0.022;0.022	B;B	0.13407	0.009;0.009	T	0.63453	-0.6634	10	0.59425	D	0.04	-32.3798	11.3444	0.49552	0.0:0.9127:0.0:0.0873	.	123;157	B7Z6I8;P53667	.;LIMK1_HUMAN	F	187;157;157;123;123	ENSP00000409717:S187F;ENSP00000336740:S157F;ENSP00000396480:S123F;ENSP00000444452:S123F	ENSP00000336740:S157F	S	+	2	0	LIMK1	73151366	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.776000	0.55356	2.605000	0.88082	0.650000	0.86243	TCC		0.647	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2		NM_002314		53	226	0	0	0	0.01441	0	53	226		
FAM71F2	346653	broad.mit.edu	37	7	128317840	128317840	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:128317840G>A	ENST00000480462.1	+	3	694	c.588G>A	c.(586-588)aaG>aaA	p.K196K	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Silent_p.K187K|FAM71F2_ENST00000477515.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	196								p.K196N(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						TGGTGCCCAAGATGCCCACCA	0.453																																						uc003vnk.3		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)AAG>AAA		hypothetical protein LOC346653 isoform a							44.0	46.0	45.0					7																	128317840		2011	4224	6235	SO:0001819	synonymous_variant	346653							g.chr7:128317840G>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.588G>A	7.37:g.128317840G>A						FAM71F2_uc010llm.1_Silent_p.K187K|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	p.K196K	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN			3	694	+			196					Q0VGF6|Q0VGF7|Q86X39	Silent	SNP	ENST00000480462.1	37	c.588G>A	CCDS47701.1																																																																																				0.453	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1				23	21	0	0	0	0.01892	0	23	21		
TRPV5	56302	broad.mit.edu	37	7	142626153	142626153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr7:142626153C>A	ENST00000265310.1	-	5	898	c.550G>T	c.(550-552)Gag>Tag	p.E184*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.E184*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	184					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCTCCATGCTCAATGAGCAGC	0.612																																						uc003wby.1		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(550-552)GAG>TAG		transient receptor potential cation channel,							90.0	74.0	79.0					7																	142626153		2203	4300	6503	SO:0001587	stop_gained	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142626153C>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.550G>T	7.37:g.142626153C>A	ENSP00000265310:p.Glu184*					TRPV5_uc003wbz.2_Nonsense_Mutation_p.E184*	p.E184*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			5	814	-	Melanoma(164;0.059)		184			ANK 4.|Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	ENST00000265310.1	37	c.550G>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	38	6.733018	0.97796	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	.	.	.	4.15	4.15	0.48705	.	0.159829	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-11.8046	15.9676	0.79985	0.0:1.0:0.0:0.0	.	.	.	.	X	184;178;184	.	ENSP00000265310:E184X	E	-	1	0	TRPV5	142336275	0.976000	0.34144	0.998000	0.56505	0.920000	0.55202	2.244000	0.43124	2.320000	0.78422	0.462000	0.41574	GAG		0.612	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1		NM_019841		12	30	1	0	2.23348e-06	0.028581	2.33399e-06	12	30		
PPP1R3B	79660	broad.mit.edu	37	8	8998846	8998846	+	Missense_Mutation	SNP	C	C	G	rs200503589		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:8998846C>G	ENST00000310455.3	-	2	466	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.E106Q|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	106					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		CTCTCGCTCTCTGCTGTCGTC	0.483																																						uc003wsn.3		NaN																	0				ovary(1)|skin(1)	2						c.(316-318)GAG>CAG		protein phosphatase 1, regulatory (inhibitor)							85.0	80.0	82.0					8																	8998846		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998846C>G	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.316G>C	8.37:g.8998846C>G	ENSP00000308318:p.Glu106Gln					PPP1R3B_uc003wso.3_Missense_Mutation_p.E105Q	p.E106Q	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	481	-			106					B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.316G>C	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016580	0.75161	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.47528	0.84;0.84	5.68	5.68	0.88126	.	0.216171	0.47455	D	0.000227	T	0.67477	0.2897	M	0.79475	2.455	0.50171	D	0.999855	D	0.69078	0.997	P	0.62382	0.901	T	0.63765	-0.6563	10	0.27785	T	0.31	-45.9447	18.7812	0.91933	0.0:1.0:0.0:0.0	.	106	Q86XI6	PPR3B_HUMAN	Q	106	ENSP00000308318:E106Q;ENSP00000428642:E106Q	ENSP00000308318:E106Q	E	-	1	0	PPP1R3B	9036256	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	4.760000	0.62235	2.678000	0.91216	0.561000	0.74099	GAG		0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1		NM_024607		33	58	0	0	0	0.012213	0	33	58		
BMP1	649	broad.mit.edu	37	8	22033756	22033756	+	Silent	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:22033756G>A	ENST00000306385.5	+	3	1033	c.363G>A	c.(361-363)gcG>gcA	p.A121A	BMP1_ENST00000354870.5_Silent_p.A121A|BMP1_ENST00000397816.3_Silent_p.A121A|BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000306349.8_Silent_p.A121A|BMP1_ENST00000397814.3_Silent_p.A121A	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	121	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCCGGCGGGCGGCGACGTCCC	0.622																																						uc003xbg.2		NaN																	0				ovary(2)|breast(1)	3						c.(361-363)GCG>GCA		bone morphogenetic protein 1 isoform 3							79.0	70.0	73.0					8																	22033756		2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22033756G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.363G>A	8.37:g.22033756G>A						BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Silent_p.A121A|BMP1_uc003xbb.2_Silent_p.A121A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_5'UTR|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_5'UTR|BMP1_uc011kzc.1_5'UTR|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.A121A	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	3	607	+			121			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.363G>A	CCDS6026.1																																																																																				0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2		NM_006132		22	41	0	0	0	0.01892	0	22	41		
PPP3CC	5533	broad.mit.edu	37	8	22332514	22332514	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:22332514G>C	ENST00000240139.5	+	2	424	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PPP3CC_ENST00000397775.3_Missense_Mutation_p.E33Q|PPP3CC_ENST00000289963.8_Missense_Mutation_p.E33Q|PPP3CC_ENST00000518852.1_Missense_Mutation_p.E33Q	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	33					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GGAAGTATTTGAGAATGGGAA	0.338																																						uc003xbs.2		NaN																	0				ovary(1)	1						c.(97-99)GAG>CAG		protein phosphatase 3, catalytic subunit, gamma							52.0	51.0	51.0					8																	22332514		2203	4300	6503	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22332514G>C		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.97G>C	8.37:g.22332514G>C	ENSP00000240139:p.Glu33Gln					PPP3CC_uc003xbr.1_Missense_Mutation_p.E33Q|PPP3CC_uc011kzi.1_Missense_Mutation_p.E33Q|PPP3CC_uc003xbt.2_Missense_Mutation_p.E33Q	p.E33Q	NM_005605	NP_005596	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	2	424	+		Prostate(55;0.104)	33					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.97G>C	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719952	0.68844	.	.	ENSG00000120910	ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775;ENST00000522000	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.78	5.78	0.91487	.	0.312775	0.33040	N	0.005342	T	0.49762	0.1576	L	0.28115	0.83	0.52501	D	0.999953	B;B;B;B	0.12013	0.002;0.003;0.003;0.005	B;B;B;B	0.19666	0.011;0.026;0.011;0.008	T	0.41324	-0.9515	10	0.54805	T	0.06	-12.3708	18.7832	0.91942	0.0:0.0:1.0:0.0	.	33;33;33;33	B4DRT5;P48454-2;P48454;G3V111	.;.;PP2BC_HUMAN;.	Q	33;33;33;33;48	ENSP00000429379:E33Q;ENSP00000240139:E33Q;ENSP00000289963:E33Q;ENSP00000380878:E33Q;ENSP00000428358:E48Q	ENSP00000240139:E33Q	E	+	1	0	PPP3CC	22388459	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.748000	0.98867	2.744000	0.94065	0.563000	0.77884	GAG		0.338	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1		NM_005605		10	20	0	0	0	0.008291	0	10	20		
LSM1	27257	broad.mit.edu	37	8	38021254	38021254	+	Silent	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:38021254C>T	ENST00000311351.4	-	4	731	c.336G>A	c.(334-336)ttG>ttA	p.L112L	RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000520755.1_3'UTR|RP11-90P5.7_ENST00000521915.1_RNA|LSM1_ENST00000522515.1_5'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	112					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					CCTGCACTTTCAACTTCTCTG	0.478																																						uc003xkw.2		NaN																	0					0						c.(334-336)TTG>TTA		Lsm1 protein							160.0	134.0	143.0					8																	38021254		2203	4300	6503	SO:0001819	synonymous_variant	27257				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr8:38021254C>T	AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.336G>A	8.37:g.38021254C>T						LSM1_uc003xkx.2_RNA	p.L112L	NM_014462	NP_055277	O15116	LSM1_HUMAN			4	524	-	Colorectal(12;0.000442)		112					B2R5E6	Silent	SNP	ENST00000311351.4	37	c.336G>A	CCDS6103.1																																																																																				0.478	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1		NM_014462		9	31	0	0	0	0.006214	0	9	31		
ST18	9705	broad.mit.edu	37	8	53084772	53084772	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:53084772T>C	ENST00000276480.7	-	10	1332	c.649A>G	c.(649-651)Aga>Gga	p.R217G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	217					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTGGGACTCTAGGTGGTTTG	0.413																																						uc003xqz.2		NaN																	0				ovary(4)|skin(1)	5						c.(649-651)AGA>GGA		suppression of tumorigenicity 18							66.0	67.0	67.0					8																	53084772		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084772T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.649A>G	8.37:g.53084772T>C	ENSP00000276480:p.Arg217Gly					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R182G|ST18_uc011lds.1_Missense_Mutation_p.R122G|ST18_uc003xra.2_Missense_Mutation_p.R217G|ST18_uc003xrb.2_Missense_Mutation_p.R217G	p.R217G	NM_014682	NP_055497	O60284	ST18_HUMAN			5	805	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	217					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.649A>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	3.551	-0.091575	0.07053	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.44083	0.93;0.93	5.91	-0.734	0.11140	.	0.709602	0.15160	N	0.277182	T	0.24890	0.0604	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	10	0.27785	T	0.31	-6.077	3.2228	0.06721	0.1499:0.4715:0.1534:0.2252	.	217	O60284	ST18_HUMAN	G	217	ENSP00000276480:R217G;ENSP00000428521:R217G	ENSP00000276480:R217G	R	-	1	2	ST18	53247325	0.000000	0.05858	0.005000	0.12908	0.251000	0.25915	0.133000	0.15912	-0.077000	0.12752	-1.151000	0.01829	AGA		0.413	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1				24	24	0	0	0	0.01892	0	24	24		
NOL6	65083	broad.mit.edu	37	9	33464905	33464905	+	Silent	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:33464905G>C	ENST00000379471.2	-	21	2838	c.2751C>G	c.(2749-2751)ctC>ctG	p.L917L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L865L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	917					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTTGACAAAGAGGGGGTTGT	0.483																																						uc003zsz.2		NaN																	0				ovary(2)	2						c.(2749-2751)CTC>CTG		nucleolar protein family 6 alpha isoform							100.0	105.0	103.0					9																	33464905		2203	4300	6503	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464905G>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2751C>G	9.37:g.33464905G>C						SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'UTR|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.L914L|NOL6_uc011lob.1_Silent_p.L865L|NOL6_uc003ztb.1_Silent_p.L917L	p.L917L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	21	2852	-			917					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.2751C>G																																																																																					0.483	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917		13	27	0	0	0	0.028581	0	13	27		
NR4A3	8013	broad.mit.edu	37	9	102590691	102590691	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:102590691C>A	ENST00000395097.2	+	3	1096	c.367C>A	c.(367-369)Ccg>Acg	p.P123T	NR4A3_ENST00000338488.4_Missense_Mutation_p.P123T|NR4A3_ENST00000330847.1_Missense_Mutation_p.P134T	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	123					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCCTCCAGCCCGGAGGACGA	0.672			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc004baf.1		NaN		Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	0				bone(173)	173						c.(367-369)CCG>ACG		nuclear receptor subfamily 4, group A, member 3							37.0	42.0	40.0					9																	102590691		2203	4299	6502	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590691C>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.367C>A	9.37:g.102590691C>A	ENSP00000378531:p.Pro123Thr					NR4A3_uc004bae.2_Missense_Mutation_p.P123T|NR4A3_uc004bag.1_Missense_Mutation_p.P123T|NR4A3_uc004bai.2_Missense_Mutation_p.P134T	p.P123T	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			3	1096	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	123					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.367C>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	5.288	0.238502	0.10023	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	D;D;D	0.92149	-2.97;-2.53;-2.98	5.21	4.29	0.51040	.	0.983377	0.08347	N	0.959962	D	0.86397	0.5923	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.003	T	0.76094	-0.3085	10	0.59425	D	0.04	.	7.0482	0.25059	0.1691:0.7189:0.0:0.112	.	134;123;123	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	T	123;123;134	ENSP00000378531:P123T;ENSP00000340301:P123T;ENSP00000333122:P134T	ENSP00000333122:P134T	P	+	1	0	NR4A3	101630512	0.003000	0.15002	0.441000	0.26858	0.058000	0.15608	1.468000	0.35332	1.287000	0.44583	0.557000	0.71058	CCG		0.672	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1				38	0	1	0	1.52319e-26	0.033182	1.66673e-26	38	0		
ZBTB26	57684	broad.mit.edu	37	9	125681289	125681289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:125681289G>A	ENST00000373656.3	-	2	998	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	ZBTB26_ENST00000373654.1_Nonsense_Mutation_p.Q309*	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTGCCTTTCTGAGTGAAAGTC	0.443																																						uc004bnj.2		NaN																	0					0						c.(925-927)CAG>TAG		zinc finger and BTB domain containing 26							78.0	74.0	75.0					9																	125681289		2203	4300	6503	SO:0001587	stop_gained	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681289G>A	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.925C>T	9.37:g.125681289G>A	ENSP00000362760:p.Gln309*					ZBTB26_uc004bnk.2_Nonsense_Mutation_p.Q309*	p.Q309*	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN			2	1137	-			309			C2H2-type 2.		B3KQ53|Q8WTR1	Nonsense_Mutation	SNP	ENST00000373656.3	37	c.925C>T	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154751	0.94686	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000362758:Q309X	Q	-	1	0	ZBTB26	124721110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	CAG		0.443	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1		NM_020924		24	35	0	0	0	0.016522	0	24	35		
STRBP	55342	broad.mit.edu	37	9	125898322	125898322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:125898322G>A	ENST00000348403.5	-	16	2200	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*	STRBP_ENST00000360998.3_Nonsense_Mutation_p.Q577*|STRBP_ENST00000447404.2_Nonsense_Mutation_p.Q591*	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	591					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACTCATACCTGAGGGATAATC	0.378																																						uc004bns.2		NaN																	0				breast(1)|skin(1)	2						c.(1771-1773)CAG>TAG		spermatid perinuclear RNA binding protein							118.0	114.0	115.0					9																	125898322		2203	4300	6503	SO:0001587	stop_gained	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125898322G>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1771C>T	9.37:g.125898322G>A	ENSP00000321347:p.Gln591*					STRBP_uc004bnt.2_Nonsense_Mutation_p.Q409*|STRBP_uc004bnu.2_Nonsense_Mutation_p.Q577*|STRBP_uc004bnv.2_Nonsense_Mutation_p.Q591*|STRBP_uc004bnr.2_Nonsense_Mutation_p.Q150*	p.Q591*	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			16	2201	-			591					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Nonsense_Mutation	SNP	ENST00000348403.5	37	c.1771C>T	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644752	0.87859	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.4739	19.4129	0.94683	0.0:0.0:1.0:0.0	.	.	.	.	X	591;591;577	.	ENSP00000321347:Q591X	Q	-	1	0	STRBP	124938143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.128000	0.94424	2.652000	0.90054	0.655000	0.94253	CAG		0.378	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1				8	20	0	0	0	0.004482	0	8	20		
TSC1	7248	broad.mit.edu	37	9	135797300	135797300	+	Missense_Mutation	SNP	C	C	G	rs118203401|rs118203402		TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr9:135797300C>G	ENST00000298552.3	-	7	790	c.569G>C	c.(568-570)cGc>cCc	p.R190P	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Missense_Mutation_p.R190P|TSC1_ENST00000440111.2_Missense_Mutation_p.R190P|TSC1_ENST00000545250.1_Missense_Mutation_p.R139P	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	190			R -> S.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCCATAAAGGCGATGAAAGAG	0.458			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)		bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	GRCh37	CM090914	TSC1	M	rs118203401	c.(568-570)CGC>CCC		tuberous sclerosis 1 protein isoform 1							137.0	131.0	133.0					9																	135797300		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135797300C>G	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.569G>C	9.37:g.135797300C>G	ENSP00000298552:p.Arg190Pro					TSC1_uc004ccb.3_Missense_Mutation_p.R190P|TSC1_uc011mcq.1_Missense_Mutation_p.R139P|TSC1_uc011mcr.1_Missense_Mutation_p.R69P|TSC1_uc011mcs.1_Missense_Mutation_p.R69P|TSC1_uc004ccc.1_Missense_Mutation_p.R190P|TSC1_uc004ccd.2_Missense_Mutation_p.R190P|TSC1_uc004cce.1_Missense_Mutation_p.R190P	p.R190P	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	7	803	-			190		R -> S.			B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.569G>C	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	35	5.461460	0.96240	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.995;0.998;0.998;1.0;0.998	D	0.94695	0.7877	10	0.62326	D	0.03	-16.1321	19.6603	0.95864	0.0:1.0:0.0:0.0	.	69;139;190;190;190;190	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	P	190;190;139;69;69;190	ENSP00000298552:R190P;ENSP00000394524:R190P;ENSP00000444017:R139P;ENSP00000438099:R69P;ENSP00000386093:R190P	ENSP00000298552:R190P	R	-	2	0	TSC1	134787121	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	CGC		0.458	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				32	7	0	0	0	0.021022	0	32	7		
TBL1X	6907	broad.mit.edu	37	X	9659696	9659696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:9659696G>T	ENST00000217964.7	+	8	1334	c.694G>T	c.(694-696)Gag>Tag	p.E232*	TBL1X_ENST00000407597.2_Nonsense_Mutation_p.E232*|TBL1X_ENST00000424279.1_Nonsense_Mutation_p.E181*|TBL1X_ENST00000380961.1_Nonsense_Mutation_p.E181*|TBL1X_ENST00000536365.1_Nonsense_Mutation_p.E181*	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	232					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TCGGGGCCATGAGTCTGAGGT	0.527																																						uc010ndq.2		NaN																	0				ovary(1)	1						c.(694-696)GAG>TAG		transducin beta-like 1X isoform a							183.0	142.0	156.0					X																	9659696		2203	4300	6503	SO:0001587	stop_gained	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9659696G>T	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.694G>T	X.37:g.9659696G>T	ENSP00000217964:p.Glu232*					TBL1X_uc004csq.3_Nonsense_Mutation_p.E181*|TBL1X_uc010ndr.2_Nonsense_Mutation_p.E181*|TBL1X_uc004csr.2_Nonsense_Mutation_p.E232*|TBL1X_uc004css.2_Nonsense_Mutation_p.E183*	p.E232*	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			8	1062	+		Hepatocellular(5;0.000888)	232			WD 1.		A8K044|A8K4J7|Q86UY2	Nonsense_Mutation	SNP	ENST00000217964.7	37	c.694G>T	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	g	40	8.320334	0.98759	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.8161	0.85734	0.0:0.0:1.0:0.0	.	.	.	.	X	232;181;181;181;232	.	ENSP00000217964:E232X	E	+	1	0	TBL1X	9619696	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.056000	0.93881	1.974000	0.57490	0.597000	0.82753	GAG		0.527	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1		NM_005647		30	5	1	0	1.13719e-10	0.037714	1.23147e-10	30	5		
ATRX	546	broad.mit.edu	37	X	76939532	76939532	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:76939532G>C	ENST00000373344.5	-	9	1430	c.1216C>G	c.(1216-1218)Cat>Gat	p.H406D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H368D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	406					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATGCAAGATGAGCCTTCTTA	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NaN		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(1216-1218)CAT>GAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						197.0	203.0	201.0					X																	76939532		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939532G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1216C>G	X.37:g.76939532G>C	ENSP00000362441:p.His406Asp					ATRX_uc004ecq.3_Missense_Mutation_p.H368D|ATRX_uc004eco.3_Missense_Mutation_p.H191D|ATRX_uc004ecr.2_Missense_Mutation_p.H367D|ATRX_uc010nlx.1_Missense_Mutation_p.H406D|ATRX_uc010nly.1_Missense_Mutation_p.H351D	p.H406D	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	1448	-			406					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1216C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	12.18	1.860450	0.32884	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.94092	-3.29;-3.35	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.96364	0.8814	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;0.996;0.993	D;D;D;D	0.91635	0.977;0.999;0.99;0.977	D	0.96937	0.9685	10	0.72032	D	0.01	-12.0992	17.6355	0.88121	0.0:0.0:1.0:0.0	.	406;367;368;406	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	D	406;368;362	ENSP00000362441:H406D;ENSP00000378967:H368D	ENSP00000362441:H406D	H	-	1	0	ATRX	76826188	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.656000	0.83736	2.093000	0.63338	0.509000	0.49947	CAT		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489		71	87	0	0	0	0.01441	0	71	87		
GPR119	139760	broad.mit.edu	37	X	129518617	129518617	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:129518617C>T	ENST00000276218.2	-	1	894	c.805G>A	c.(805-807)Gtg>Atg	p.V269M		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	269					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GAGTTGCCCACGCCGAGCAGC	0.577																																						uc011muv.1		NaN																	0				ovary(2)	2						c.(805-807)GTG>ATG		G protein-coupled receptor 119							78.0	70.0	73.0					X																	129518617		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518617C>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.805G>A	X.37:g.129518617C>T	ENSP00000276218:p.Val269Met						p.V269M	NM_178471	NP_848566	Q8TDV5	GP119_HUMAN			1	805	-			269			Helical; Name=7; (Potential).		Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.805G>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730617	0.30684	.	.	ENSG00000147262	ENST00000276218	T	0.72394	-0.65	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.238356	0.35970	N	0.002862	T	0.60560	0.2278	N	0.17474	0.49	0.32291	N	0.566252	D	0.54047	0.964	P	0.44518	0.452	T	0.72434	-0.4295	10	0.87932	D	0	-10.7891	16.5357	0.84372	0.0:1.0:0.0:0.0	.	269	Q8TDV5	GP119_HUMAN	M	269	ENSP00000276218:V269M	ENSP00000276218:V269M	V	-	1	0	GPR119	129346298	0.886000	0.30341	0.979000	0.43373	0.806000	0.45545	1.836000	0.39191	2.426000	0.82243	0.600000	0.82982	GTG		0.577	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1		NM_178471		63	1	0	0	0	0.01441	0	63	1		
MAGEC1	9947	broad.mit.edu	37	X	140993970	140993970	+	Silent	SNP	T	T	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chrX:140993970T>C	ENST00000285879.4	+	4	1066	c.780T>C	c.(778-780)ttT>ttC	p.F260F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	260										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTACTTTTGAGGGTTTTG	0.498										HNSCC(15;0.026)																												uc004fbt.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(778-780)TTT>TTC		melanoma antigen family C, 1							75.0	57.0	63.0					X																	140993970		2023	3698	5721	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140993970T>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.780T>C	X.37:g.140993970T>C		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.F260F	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1066	+	Acute lymphoblastic leukemia(192;6.56e-05)		260					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.780T>C	CCDS35417.1																																																																																				0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462		5	87	0	0	0	0.021553	0	5	87		
MAEL	84944	broad.mit.edu	37	1	166974581	166974581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr1:166974581delT	ENST00000367872.4	+	8	1036	c.792delT	c.(790-792)actfs	p.T264fs	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Frame_Shift_Del_p.T233fs|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	264					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CCTCTAAGACTTGGATTCGAA	0.398																																						uc001gdy.1		NaN																	0				skin(1)	1						c.(790-792)ACTfs		maelstrom homolog							84.0	89.0	87.0					1																	166974581		2203	4300	6503	SO:0001589	frameshift_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166974581delT	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.792delT	1.37:g.166974581delT	ENSP00000356846:p.Thr264fs					MAEL_uc001gdz.1_Frame_Shift_Del_p.T233fs|MAEL_uc009wvf.1_RNA	p.T264fs	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			8	863	+			264					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Frame_Shift_Del	DEL	ENST00000367872.4	37	c.792delT	CCDS1257.1																																																																																				0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1		NM_032858		22	22	NaN	NaN	NaN	NaN	NaN	22	22	---	---
CHGA	1113	broad.mit.edu	37	14	93398816	93398818	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr14:93398816_93398818delGAG	ENST00000216492.5	+	7	1190_1192	c.910_912delGAG	c.(910-912)gagdel	p.E308del	CHGA_ENST00000334654.4_In_Frame_Del_p.E157del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	308					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CCAGCAGAAAGAGGAGGAGGAGG	0.655																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	uc001ybc.3		NaN																	0				skin(2)	2						c.(910-912)GAGdel		chromogranin A precursor				16,4180		3,10,2085						-2.6	0.1			27	61,8097		20,21,4038	no	coding	CHGA	NM_001275.3		23,31,6123	A1A1,A1R,RR		0.7477,0.3813,0.6233				77,12277				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93398816_93398818delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.910_912delGAG	14.37:g.93398825_93398827delGAG	ENSP00000216492:p.Glu308del					CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_In_Frame_Del_p.E157del	p.E308del	NM_001275	NP_001266	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	7	1170_1172	+		all_cancers(154;0.0843)	308					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.910_912delGAG	CCDS9906.1																																																																																				0.655	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1		NM_001275		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
UNC13C	440279	broad.mit.edu	37	15	54825189	54825189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr15:54825189delC	ENST00000260323.11	+	25	5621	c.5621delC	c.(5620-5622)accfs	p.T1875fs	UNC13C_ENST00000545554.1_Frame_Shift_Del_p.T1875fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.T1873fs	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATGGAAACACCACATCTAAT	0.313																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(5620-5622)ACCfs		unc-13 homolog C							80.0	81.0	81.0					15																	54825189		1824	4089	5913	SO:0001589	frameshift_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825189delC	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5621delC	15.37:g.54825189delC	ENSP00000260323:p.Thr1875fs						p.T1874fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	24	5621	+			1874					Q0P613|Q8ND48|Q96NP3	Frame_Shift_Del	DEL	ENST00000260323.11	37	c.5621delC	CCDS45264.1																																																																																				0.313	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		7	4	NaN	NaN	NaN	NaN	NaN	7	4	---	---
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1255-1257)AGCdel		AF4/FMR2 family, member 3 isoform 1			,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100218011_100218013delGCT	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del					AFF3_uc002taf.2_In_Frame_Del_p.S444del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del	p.S419del	NM_002285	NP_002276	P51826	AFF3_HUMAN			13	1491_1493	-			419			Poly-Ser.		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	c.1255_1257delAGC	CCDS42723.1																																																																																				0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		3	6	NaN	NaN	NaN	NaN	NaN	3	6	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652011	36652012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr6:36652011_36652012insC	ENST00000405375.1	+	2	368_369	c.133_134insC	c.(133-135)gccfs	p.A45fs	CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	45					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CATCCAGGAGGCCCGTGAGCGA	0.658																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(133-135)GCCfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652011_36652012insC	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.136dupC	6.37:g.36652014_36652014dupC	ENSP00000384849:p.Ala45fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.A79fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.A45fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.A45fs	p.A45fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	255_256	+			45					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.133_134insC	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		20	24	NaN	NaN	NaN	NaN	NaN	20	24	---	---
BHLHE22	27319	broad.mit.edu	37	8	65493618	65493620	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:65493618_65493620delGGC	ENST00000321870.1	+	1	805_807	c.271_273delGGC	c.(271-273)ggcdel	p.G97del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	97	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cgcgggaagtggcggcggcggcg	0.783																																					Colon(113;104 1586 2865 9855 18065)	uc003xvi.2		NaN																	0					0						c.(271-273)GGCdel		basic helix-loop-helix domain containing, class				32,3,273		11,0,10,1,1,131						-0.8	1.0			2	120,17,1243		44,0,32,5,7,602	no	codingComplex	BHLHE22	NM_152414.4		55,0,42,6,8,733	A1A1,A1A2,A1R,A2A2,A2R,RR		9.9275,11.3636,10.1896				152,20,1516				SO:0001651	inframe_deletion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493618_65493620delGGC	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.271_273delGGC	8.37:g.65493627_65493629delGGC	ENSP00000318799:p.Gly97del					LOC401463_uc003xvh.2_Intron	p.G97del	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			1	805_807	+			97			Gly-rich.			In_Frame_Del	DEL	ENST00000321870.1	37	c.271_273delGGC	CCDS6179.1																																																																																				0.783	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1		NM_152414		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
RIMS2	9699	broad.mit.edu	37	8	104933968	104933968	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A3MG-01A-11D-A20D-08	TCGA-CF-A3MG-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c89ce08-ed24-4179-8884-4706660b7da8	acef2a84-c0aa-447e-b57f-0b685260dcdd	g.chr8:104933968delG	ENST00000436393.2	+	8	1727	c.1486delG	c.(1486-1488)ggafs	p.G496fs	RIMS2_ENST00000262231.10_Frame_Shift_Del_p.G573fs|RIMS2_ENST00000507740.1_Frame_Shift_Del_p.G526fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.G718fs			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	796					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATGAGTCCTGGAATGTTGAG	0.348										HNSCC(12;0.0054)																												uc003yls.2		NaN																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1486-1488)GGAfs		regulating synaptic membrane exocytosis 2							166.0	154.0	157.0					8																	104933968		1850	4099	5949	SO:0001589	frameshift_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104933968delG	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1486delG	8.37:g.104933968delG	ENSP00000390665:p.Gly496fs	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Frame_Shift_Del_p.G718fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.G526fs|RIMS2_uc003ylq.2_Frame_Shift_Del_p.G526fs|RIMS2_uc003ylr.2_Frame_Shift_Del_p.G573fs|RIMS2_uc003ylt.2_Frame_Shift_Del_p.G119fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.G109fs	p.G496fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		8	1727	+			796					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Frame_Shift_Del	DEL	ENST00000436393.2	37	c.1486delG																																																																																					0.348	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117		30	54	NaN	NaN	NaN	NaN	NaN	30	54	---	---
